SNP Links for Protein (Select 1023300995) - SNP

Links from Protein

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Select item 14869749191.

rs1486974919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:17714590 (GRCh38)
10:17756589 (GRCh37)
Canonical SPDI:: NC_000010.11:17714589:C:A
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.17714590C>A, NC_000010.10:g.17756589C>A, NW_003315932.1:g.143381C>A, XM_011519695.4:c.*1210C>A, NM_003473.4:c.1433C>A, NM_003473.3:c.1433C>A, NM_001324288.2:c.1049C>A, NM_001324288.1:c.1049C>A, NM_001324285.2:c.1283C>A, NM_001324285.1:c.1283C>A, NM_001324284.2:c.1283C>A, NM_001324284.1:c.1283C>A, NM_001324289.2:c.1049C>A, NM_001324289.1:c.1049C>A, NM_001324283.2:c.1283C>A, NM_001324283.1:c.1283C>A, NM_001324282.2:c.1337C>A, NM_001324282.1:c.1337C>A, NM_001324287.2:c.1100C>A, NM_001324287.1:c.1100C>A, NM_001324286.2:c.1142C>A, NM_001324286.1:c.1142C>A, NR_037774.1:n.1476C>A, NP_003464.1:p.Pro478Gln, NP_001311217.1:p.Pro350Gln, NP_001311214.1:p.Pro428Gln, NP_001311213.1:p.Pro428Gln, NP_001311218.1:p.Pro350Gln, NP_001311212.1:p.Pro428Gln, NP_001311211.1:p.Pro446Gln, NP_001311216.1:p.Pro367Gln, NP_001311215.1:p.Pro381Gln

Select item 14854221592.

rs1485422159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:17693224 (GRCh38)
10:17735223 (GRCh37)
Canonical SPDI:: NC_000010.11:17693223:T:C
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.17693224T>C, NC_000010.10:g.17735223T>C, NW_003315932.1:g.122015T>C, XM_011519695.4:c.447T>C, XM_011519695.3:c.447T>C, XM_011519695.2:c.447T>C, XM_011519695.1:c.447T>C, NM_003473.4:c.447T>C, NM_003473.3:c.447T>C, NM_001324288.2:c.63T>C, NM_001324288.1:c.63T>C, NM_001324285.2:c.297T>C, NM_001324285.1:c.297T>C, NM_001324284.2:c.297T>C, NM_001324284.1:c.297T>C, NM_001324289.2:c.63T>C, NM_001324289.1:c.63T>C, NM_001324283.2:c.297T>C, NM_001324283.1:c.297T>C, NM_001324282.2:c.351T>C, NM_001324282.1:c.351T>C, NM_001324287.2:c.114T>C, NM_001324287.1:c.114T>C, NM_001324286.2:c.156T>C, NM_001324286.1:c.156T>C, NR_037774.1:n.490T>C

Select item 14833237793.

rs1483323779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:17705667 (GRCh38)
10:17747666 (GRCh37)
Canonical SPDI:: NC_000010.11:17705666:C:A,NC_000010.11:17705666:C:T
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00005/7 (GnomAD)
HGVS:: NC_000010.11:g.17705667C>A, NC_000010.11:g.17705667C>T, NC_000010.10:g.17747666C>A, NC_000010.10:g.17747666C>T, NW_003315932.1:g.134458C>A, NW_003315932.1:g.134458C>T, XM_011519695.4:c.1135C>A, XM_011519695.4:c.1135C>T, XM_011519695.3:c.1135C>A, XM_011519695.3:c.1135C>T, XM_011519695.2:c.1135C>A, XM_011519695.2:c.1135C>T, XM_011519695.1:c.1135C>A, XM_011519695.1:c.1135C>T, NM_003473.4:c.1135C>A, NM_003473.4:c.1135C>T, NM_003473.3:c.1135C>A, NM_003473.3:c.1135C>T, NM_001324288.2:c.751C>A, NM_001324288.2:c.751C>T, NM_001324288.1:c.751C>A, NM_001324288.1:c.751C>T, NM_001324285.2:c.985C>A, NM_001324285.2:c.985C>T, NM_001324285.1:c.985C>A, NM_001324285.1:c.985C>T, NM_001324284.2:c.985C>A, NM_001324284.2:c.985C>T, NM_001324284.1:c.985C>A, NM_001324284.1:c.985C>T, NM_001324289.2:c.751C>A, NM_001324289.2:c.751C>T, NM_001324289.1:c.751C>A, NM_001324289.1:c.751C>T, NM_001324283.2:c.985C>A, NM_001324283.2:c.985C>T, NM_001324283.1:c.985C>A, NM_001324283.1:c.985C>T, NM_001324282.2:c.1039C>A, NM_001324282.2:c.1039C>T, NM_001324282.1:c.1039C>A, NM_001324282.1:c.1039C>T, NM_001324287.2:c.802C>A, NM_001324287.2:c.802C>T, NM_001324287.1:c.802C>A, NM_001324287.1:c.802C>T, NM_001324286.2:c.844C>A, NM_001324286.2:c.844C>T, NM_001324286.1:c.844C>A, NM_001324286.1:c.844C>T, NR_037774.1:n.1178C>A, NR_037774.1:n.1178C>T, XP_011517997.1:p.Pro379Thr, XP_011517997.1:p.Pro379Ser, NP_003464.1:p.Pro379Thr, NP_003464.1:p.Pro379Ser, NP_001311217.1:p.Pro251Thr, NP_001311217.1:p.Pro251Ser, NP_001311214.1:p.Pro329Thr, NP_001311214.1:p.Pro329Ser, NP_001311213.1:p.Pro329Thr, NP_001311213.1:p.Pro329Ser, NP_001311218.1:p.Pro251Thr, NP_001311218.1:p.Pro251Ser, NP_001311212.1:p.Pro329Thr, NP_001311212.1:p.Pro329Ser, NP_001311211.1:p.Pro347Thr, NP_001311211.1:p.Pro347Ser, NP_001311216.1:p.Pro268Thr, NP_001311216.1:p.Pro268Ser, NP_001311215.1:p.Pro282Thr, NP_001311215.1:p.Pro282Ser

Select item 14831443864.

rs1483144386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:17690199 (GRCh38)
10:17732198 (GRCh37)
Canonical SPDI:: NC_000010.11:17690198:T:A
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.17690199T>A, NC_000010.10:g.17732198T>A, NW_003315932.1:g.118990T>A, NM_001324288.2:c.25T>A, NM_001324288.1:c.25T>A, NM_001324289.2:c.25T>A, NM_001324289.1:c.25T>A, NP_001311217.1:p.Phe9Ile, NP_001311218.1:p.Phe9Ile

Select item 14770736855.

rs1477073685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:17708848 (GRCh38)
10:17750847 (GRCh37)
Canonical SPDI:: NC_000010.11:17708847:T:C
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.17708848T>C, NC_000010.10:g.17750847T>C, NW_003315932.1:g.137639T>C, XM_011519695.4:c.1282T>C, XM_011519695.3:c.1282T>C, XM_011519695.2:c.1282T>C, XM_011519695.1:c.1282T>C, NM_003473.4:c.1282T>C, NM_003473.3:c.1282T>C, NM_001324288.2:c.898T>C, NM_001324288.1:c.898T>C, NM_001324285.2:c.1132T>C, NM_001324285.1:c.1132T>C, NM_001324284.2:c.1132T>C, NM_001324284.1:c.1132T>C, NM_001324289.2:c.898T>C, NM_001324289.1:c.898T>C, NM_001324283.2:c.1132T>C, NM_001324283.1:c.1132T>C, NM_001324282.2:c.1186T>C, NM_001324282.1:c.1186T>C, NM_001324287.2:c.949T>C, NM_001324287.1:c.949T>C, NM_001324286.2:c.991T>C, NM_001324286.1:c.991T>C, NR_037774.1:n.1325T>C, XP_011517997.1:p.Tyr428His, NP_003464.1:p.Tyr428His, NP_001311217.1:p.Tyr300His, NP_001311214.1:p.Tyr378His, NP_001311213.1:p.Tyr378His, NP_001311218.1:p.Tyr300His, NP_001311212.1:p.Tyr378His, NP_001311211.1:p.Tyr396His, NP_001311216.1:p.Tyr317His, NP_001311215.1:p.Tyr331His

Select item 14760813666.

rs1476081366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:17700268 (GRCh38)
10:17742267 (GRCh37)
Canonical SPDI:: NC_000010.11:17700267:T:G
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.17700268T>G, NC_000010.10:g.17742267T>G, NW_003315932.1:g.129059T>G, XM_011519695.4:c.901T>G, XM_011519695.3:c.901T>G, XM_011519695.2:c.901T>G, XM_011519695.1:c.901T>G, NM_003473.4:c.901T>G, NM_003473.3:c.901T>G, NM_001324288.2:c.517T>G, NM_001324288.1:c.517T>G, NM_001324285.2:c.751T>G, NM_001324285.1:c.751T>G, NM_001324284.2:c.751T>G, NM_001324284.1:c.751T>G, NM_001324289.2:c.517T>G, NM_001324289.1:c.517T>G, NM_001324283.2:c.751T>G, NM_001324283.1:c.751T>G, NM_001324282.2:c.805T>G, NM_001324282.1:c.805T>G, NM_001324287.2:c.568T>G, NM_001324287.1:c.568T>G, NM_001324286.2:c.610T>G, NM_001324286.1:c.610T>G, NR_037774.1:n.944T>G, XP_011517997.1:p.Phe301Val, NP_003464.1:p.Phe301Val, NP_001311217.1:p.Phe173Val, NP_001311214.1:p.Phe251Val, NP_001311213.1:p.Phe251Val, NP_001311218.1:p.Phe173Val, NP_001311212.1:p.Phe251Val, NP_001311211.1:p.Phe269Val, NP_001311216.1:p.Phe190Val, NP_001311215.1:p.Phe204Val

Select item 14663999157.

rs1466399915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:17714636 (GRCh38)
10:17756635 (GRCh37)
Canonical SPDI:: NC_000010.11:17714635:C:T
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.17714636C>T, NC_000010.10:g.17756635C>T, NW_003315932.1:g.143427C>T, XM_011519695.4:c.*1256C>T, NM_003473.4:c.1479C>T, NM_003473.3:c.1479C>T, NM_001324288.2:c.1095C>T, NM_001324288.1:c.1095C>T, NM_001324285.2:c.1329C>T, NM_001324285.1:c.1329C>T, NM_001324284.2:c.1329C>T, NM_001324284.1:c.1329C>T, NM_001324289.2:c.1095C>T, NM_001324289.1:c.1095C>T, NM_001324283.2:c.1329C>T, NM_001324283.1:c.1329C>T, NM_001324282.2:c.1383C>T, NM_001324282.1:c.1383C>T, NM_001324287.2:c.1146C>T, NM_001324287.1:c.1146C>T, NM_001324286.2:c.1188C>T, NM_001324286.1:c.1188C>T, NR_037774.1:n.1522C>T

Select item 14610548608.

rs1461054860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:17704985 (GRCh38)
10:17746984 (GRCh37)
Canonical SPDI:: NC_000010.11:17704984:T:C
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.17704985T>C, NC_000010.10:g.17746984T>C, NW_003315932.1:g.133776T>C, XM_011519695.4:c.1016T>C, XM_011519695.3:c.1016T>C, XM_011519695.2:c.1016T>C, XM_011519695.1:c.1016T>C, NM_003473.4:c.1016T>C, NM_003473.3:c.1016T>C, NM_001324288.2:c.632T>C, NM_001324288.1:c.632T>C, NM_001324285.2:c.866T>C, NM_001324285.1:c.866T>C, NM_001324284.2:c.866T>C, NM_001324284.1:c.866T>C, NM_001324289.2:c.632T>C, NM_001324289.1:c.632T>C, NM_001324283.2:c.866T>C, NM_001324283.1:c.866T>C, NM_001324282.2:c.920T>C, NM_001324282.1:c.920T>C, NM_001324287.2:c.683T>C, NM_001324287.1:c.683T>C, NM_001324286.2:c.725T>C, NM_001324286.1:c.725T>C, NR_037774.1:n.1059T>C, XP_011517997.1:p.Met339Thr, NP_003464.1:p.Met339Thr, NP_001311217.1:p.Met211Thr, NP_001311214.1:p.Met289Thr, NP_001311213.1:p.Met289Thr, NP_001311218.1:p.Met211Thr, NP_001311212.1:p.Met289Thr, NP_001311211.1:p.Met307Thr, NP_001311216.1:p.Met228Thr, NP_001311215.1:p.Met242Thr

Select item 14597225659.

rs1459722565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:17704516 (GRCh38)
10:17746515 (GRCh37)
Canonical SPDI:: NC_000010.11:17704515:A:G
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.17704516A>G, NC_000010.10:g.17746515A>G, NW_003315932.1:g.133307A>G, XM_011519695.4:c.998A>G, XM_011519695.3:c.998A>G, XM_011519695.2:c.998A>G, XM_011519695.1:c.998A>G, NM_003473.4:c.998A>G, NM_003473.3:c.998A>G, NM_001324288.2:c.614A>G, NM_001324288.1:c.614A>G, NM_001324285.2:c.848A>G, NM_001324285.1:c.848A>G, NM_001324284.2:c.848A>G, NM_001324284.1:c.848A>G, NM_001324289.2:c.614A>G, NM_001324289.1:c.614A>G, NM_001324283.2:c.848A>G, NM_001324283.1:c.848A>G, NM_001324282.2:c.902A>G, NM_001324282.1:c.902A>G, NM_001324287.2:c.665A>G, NM_001324287.1:c.665A>G, NM_001324286.2:c.707A>G, NM_001324286.1:c.707A>G, NR_037774.1:n.1041A>G, XP_011517997.1:p.Glu333Gly, NP_003464.1:p.Glu333Gly, NP_001311217.1:p.Glu205Gly, NP_001311214.1:p.Glu283Gly, NP_001311213.1:p.Glu283Gly, NP_001311218.1:p.Glu205Gly, NP_001311212.1:p.Glu283Gly, NP_001311211.1:p.Glu301Gly, NP_001311216.1:p.Glu222Gly, NP_001311215.1:p.Glu236Gly

Select item 145971061210.

rs1459710612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:17705732 (GRCh38)
10:17747731 (GRCh37)
Canonical SPDI:: NC_000010.11:17705731:T:C
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.17705732T>C, NC_000010.10:g.17747731T>C, NW_003315932.1:g.134523T>C, XM_011519695.4:c.1200T>C, XM_011519695.3:c.1200T>C, XM_011519695.2:c.1200T>C, XM_011519695.1:c.1200T>C, NM_003473.4:c.1200T>C, NM_003473.3:c.1200T>C, NM_001324288.2:c.816T>C, NM_001324288.1:c.816T>C, NM_001324285.2:c.1050T>C, NM_001324285.1:c.1050T>C, NM_001324284.2:c.1050T>C, NM_001324284.1:c.1050T>C, NM_001324289.2:c.816T>C, NM_001324289.1:c.816T>C, NM_001324283.2:c.1050T>C, NM_001324283.1:c.1050T>C, NM_001324282.2:c.1104T>C, NM_001324282.1:c.1104T>C, NM_001324287.2:c.867T>C, NM_001324287.1:c.867T>C, NM_001324286.2:c.909T>C, NM_001324286.1:c.909T>C, NR_037774.1:n.1243T>C

Select item 144717798911.

rs1447177989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:17714738 (GRCh38)
10:17756737 (GRCh37)
Canonical SPDI:: NC_000010.11:17714737:A:C,NC_000010.11:17714737:A:G
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.17714738A>C, NC_000010.11:g.17714738A>G, NC_000010.10:g.17756737A>C, NC_000010.10:g.17756737A>G, NW_003315932.1:g.143529A>C, NW_003315932.1:g.143529A>G, XM_011519695.4:c.*1358A>C, XM_011519695.4:c.*1358A>G, NM_003473.4:c.1581A>C, NM_003473.4:c.1581A>G, NM_003473.3:c.1581A>C, NM_003473.3:c.1581A>G, NM_001324288.2:c.1197A>C, NM_001324288.2:c.1197A>G, NM_001324288.1:c.1197A>C, NM_001324288.1:c.1197A>G, NM_001324285.2:c.1431A>C, NM_001324285.2:c.1431A>G, NM_001324285.1:c.1431A>C, NM_001324285.1:c.1431A>G, NM_001324284.2:c.1431A>C, NM_001324284.2:c.1431A>G, NM_001324284.1:c.1431A>C, NM_001324284.1:c.1431A>G, NM_001324289.2:c.1197A>C, NM_001324289.2:c.1197A>G, NM_001324289.1:c.1197A>C, NM_001324289.1:c.1197A>G, NM_001324283.2:c.1431A>C, NM_001324283.2:c.1431A>G, NM_001324283.1:c.1431A>C, NM_001324283.1:c.1431A>G, NM_001324282.2:c.1485A>C, NM_001324282.2:c.1485A>G, NM_001324282.1:c.1485A>C, NM_001324282.1:c.1485A>G, NM_001324287.2:c.1248A>C, NM_001324287.2:c.1248A>G, NM_001324287.1:c.1248A>C, NM_001324287.1:c.1248A>G, NM_001324286.2:c.1290A>C, NM_001324286.2:c.1290A>G, NM_001324286.1:c.1290A>C, NM_001324286.1:c.1290A>G, NR_037774.1:n.1624A>C, NR_037774.1:n.1624A>G

Select item 143515442612.

rs1435154426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:17695218 (GRCh38)
10:17737217 (GRCh37)
Canonical SPDI:: NC_000010.11:17695217:A:G
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.17695218A>G, NC_000010.10:g.17737217A>G, NW_003315932.1:g.124009A>G, XM_011519695.4:c.705A>G, XM_011519695.3:c.705A>G, XM_011519695.2:c.705A>G, XM_011519695.1:c.705A>G, NM_003473.4:c.705A>G, NM_003473.3:c.705A>G, NM_001324288.2:c.321A>G, NM_001324288.1:c.321A>G, NM_001324285.2:c.555A>G, NM_001324285.1:c.555A>G, NM_001324284.2:c.555A>G, NM_001324284.1:c.555A>G, NM_001324289.2:c.321A>G, NM_001324289.1:c.321A>G, NM_001324283.2:c.555A>G, NM_001324283.1:c.555A>G, NM_001324282.2:c.609A>G, NM_001324282.1:c.609A>G, NM_001324287.2:c.372A>G, NM_001324287.1:c.372A>G, NM_001324286.2:c.414A>G, NM_001324286.1:c.414A>G, NR_037774.1:n.748A>G

Select item 143265567413.

rs1432655674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:17704443 (GRCh38)
10:17746442 (GRCh37)
Canonical SPDI:: NC_000010.11:17704442:C:A
Gene:: STAM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.17704443C>A, NC_000010.10:g.17746442C>A, NW_003315932.1:g.133234C>A, XM_011519695.4:c.925C>A, XM_011519695.3:c.925C>A, XM_011519695.2:c.925C>A, XM_011519695.1:c.925C>A, NM_003473.4:c.925C>A, NM_003473.3:c.925C>A, NM_001324288.2:c.541C>A, NM_001324288.1:c.541C>A, NM_001324285.2:c.775C>A, NM_001324285.1:c.775C>A, NM_001324284.2:c.775C>A, NM_001324284.1:c.775C>A, NM_001324289.2:c.541C>A, NM_001324289.1:c.541C>A, NM_001324283.2:c.775C>A, NM_001324283.1:c.775C>A, NM_001324282.2:c.829C>A, NM_001324282.1:c.829C>A, NM_001324287.2:c.592C>A, NM_001324287.1:c.592C>A, NM_001324286.2:c.634C>A, NM_001324286.1:c.634C>A, NR_037774.1:n.968C>A, XP_011517997.1:p.Gln309Lys, NP_003464.1:p.Gln309Lys, NP_001311217.1:p.Gln181Lys, NP_001311214.1:p.Gln259Lys, NP_001311213.1:p.Gln259Lys, NP_001311218.1:p.Gln181Lys, NP_001311212.1:p.Gln259Lys, NP_001311211.1:p.Gln277Lys, NP_001311216.1:p.Gln198Lys, NP_001311215.1:p.Gln212Lys

Select item 142591456514.

rs1425914565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:17695221 (GRCh38)
10:17737220 (GRCh37)
Canonical SPDI:: NC_000010.11:17695220:T:C,NC_000010.11:17695220:T:G
Gene:: STAM (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.17695221T>C, NC_000010.11:g.17695221T>G, NC_000010.10:g.17737220T>C, NC_000010.10:g.17737220T>G, NW_003315932.1:g.124012T>C, NW_003315932.1:g.124012T>G, XM_011519695.4:c.708T>C, XM_011519695.4:c.708T>G, XM_011519695.3:c.708T>C, XM_011519695.3:c.708T>G, XM_011519695.2:c.708T>C, XM_011519695.2:c.708T>G, XM_011519695.1:c.708T>C, XM_011519695.1:c.708T>G, NM_003473.4:c.708T>C, NM_003473.4:c.708T>G, NM_003473.3:c.708T>C, NM_003473.3:c.708T>G, NM_001324288.2:c.324T>C, NM_001324288.2:c.324T>G, NM_001324288.1:c.324T>C, NM_001324288.1:c.324T>G, NM_001324285.2:c.558T>C, NM_001324285.2:c.558T>G, NM_001324285.1:c.558T>C, NM_001324285.1:c.558T>G, NM_001324284.2:c.558T>C, NM_001324284.2:c.558T>G, NM_001324284.1:c.558T>C, NM_001324284.1:c.558T>G, NM_001324289.2:c.324T>C, NM_001324289.2:c.324T>G, NM_001324289.1:c.324T>C, NM_001324289.1:c.324T>G, NM_001324283.2:c.558T>C, NM_001324283.2:c.558T>G, NM_001324283.1:c.558T>C, NM_001324283.1:c.558T>G, NM_001324282.2:c.612T>C, NM_001324282.2:c.612T>G, NM_001324282.1:c.612T>C, NM_001324282.1:c.612T>G, NM_001324287.2:c.375T>C, NM_001324287.2:c.375T>G, NM_001324287.1:c.375T>C, NM_001324287.1:c.375T>G, NM_001324286.2:c.417T>C, NM_001324286.2:c.417T>G, NM_001324286.1:c.417T>C, NM_001324286.1:c.417T>G, NR_037774.1:n.751T>C, NR_037774.1:n.751T>G, XP_011517997.1:p.Ile236Met, NP_003464.1:p.Ile236Met, NP_001311217.1:p.Ile108Met, NP_001311214.1:p.Ile186Met, NP_001311213.1:p.Ile186Met, NP_001311218.1:p.Ile108Met, NP_001311212.1:p.Ile186Met, NP_001311211.1:p.Ile204Met, NP_001311216.1:p.Ile125Met, NP_001311215.1:p.Ile139Met

Select item 141823998415.

rs1418239984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:17700278 (GRCh38)
10:17742277 (GRCh37)
Canonical SPDI:: NC_000010.11:17700277:A:G
Gene:: STAM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.17700278A>G, NC_000010.10:g.17742277A>G, NW_003315932.1:g.129069A>G, XM_011519695.4:c.911A>G, XM_011519695.3:c.911A>G, XM_011519695.2:c.911A>G, XM_011519695.1:c.911A>G, NM_003473.4:c.911A>G, NM_003473.3:c.911A>G, NM_001324288.2:c.527A>G, NM_001324288.1:c.527A>G, NM_001324285.2:c.761A>G, NM_001324285.1:c.761A>G, NM_001324284.2:c.761A>G, NM_001324284.1:c.761A>G, NM_001324289.2:c.527A>G, NM_001324289.1:c.527A>G, NM_001324283.2:c.761A>G, NM_001324283.1:c.761A>G, NM_001324282.2:c.815A>G, NM_001324282.1:c.815A>G, NM_001324287.2:c.578A>G, NM_001324287.1:c.578A>G, NM_001324286.2:c.620A>G, NM_001324286.1:c.620A>G, NR_037774.1:n.954A>G, XP_011517997.1:p.Glu304Gly, NP_003464.1:p.Glu304Gly, NP_001311217.1:p.Glu176Gly, NP_001311214.1:p.Glu254Gly, NP_001311213.1:p.Glu254Gly, NP_001311218.1:p.Glu176Gly, NP_001311212.1:p.Glu254Gly, NP_001311211.1:p.Glu272Gly, NP_001311216.1:p.Glu193Gly, NP_001311215.1:p.Glu207Gly

Select item 141799335216.

rs1417993352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:17704489 (GRCh38)
10:17746488 (GRCh37)
Canonical SPDI:: NC_000010.11:17704488:C:G
Gene:: STAM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.17704489C>G, NC_000010.10:g.17746488C>G, NW_003315932.1:g.133280C>G, XM_011519695.4:c.971C>G, XM_011519695.3:c.971C>G, XM_011519695.2:c.971C>G, XM_011519695.1:c.971C>G, NM_003473.4:c.971C>G, NM_003473.3:c.971C>G, NM_001324288.2:c.587C>G, NM_001324288.1:c.587C>G, NM_001324285.2:c.821C>G, NM_001324285.1:c.821C>G, NM_001324284.2:c.821C>G, NM_001324284.1:c.821C>G, NM_001324289.2:c.587C>G, NM_001324289.1:c.587C>G, NM_001324283.2:c.821C>G, NM_001324283.1:c.821C>G, NM_001324282.2:c.875C>G, NM_001324282.1:c.875C>G, NM_001324287.2:c.638C>G, NM_001324287.1:c.638C>G, NM_001324286.2:c.680C>G, NM_001324286.1:c.680C>G, NR_037774.1:n.1014C>G, XP_011517997.1:p.Pro324Arg, NP_003464.1:p.Pro324Arg, NP_001311217.1:p.Pro196Arg, NP_001311214.1:p.Pro274Arg, NP_001311213.1:p.Pro274Arg, NP_001311218.1:p.Pro196Arg, NP_001311212.1:p.Pro274Arg, NP_001311211.1:p.Pro292Arg, NP_001311216.1:p.Pro213Arg, NP_001311215.1:p.Pro227Arg

Select item 141767501317.

rs1417675013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:17714548 (GRCh38)
10:17756547 (GRCh37)
Canonical SPDI:: NC_000010.11:17714547:T:C
Gene:: STAM (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000071/2 (TOMMO)
HGVS:: NC_000010.11:g.17714548T>C, NC_000010.10:g.17756547T>C, NW_003315932.1:g.143339T>C, XM_011519695.4:c.*1168T>C, NM_003473.4:c.1391T>C, NM_003473.3:c.1391T>C, NM_001324288.2:c.1007T>C, NM_001324288.1:c.1007T>C, NM_001324285.2:c.1241T>C, NM_001324285.1:c.1241T>C, NM_001324284.2:c.1241T>C, NM_001324284.1:c.1241T>C, NM_001324289.2:c.1007T>C, NM_001324289.1:c.1007T>C, NM_001324283.2:c.1241T>C, NM_001324283.1:c.1241T>C, NM_001324282.2:c.1295T>C, NM_001324282.1:c.1295T>C, NM_001324287.2:c.1058T>C, NM_001324287.1:c.1058T>C, NM_001324286.2:c.1100T>C, NM_001324286.1:c.1100T>C, NR_037774.1:n.1434T>C, NP_003464.1:p.Met464Thr, NP_001311217.1:p.Met336Thr, NP_001311214.1:p.Met414Thr, NP_001311213.1:p.Met414Thr, NP_001311218.1:p.Met336Thr, NP_001311212.1:p.Met414Thr, NP_001311211.1:p.Met432Thr, NP_001311216.1:p.Met353Thr, NP_001311215.1:p.Met367Thr

Select item 141740238718.

rs1417402387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:17714640 (GRCh38)
10:17756639 (GRCh37)
Canonical SPDI:: NC_000010.11:17714639:G:A
Gene:: STAM (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.17714640G>A, NC_000010.10:g.17756639G>A, NW_003315932.1:g.143431G>A, XM_011519695.4:c.*1260G>A, NM_003473.4:c.1483G>A, NM_003473.3:c.1483G>A, NM_001324288.2:c.1099G>A, NM_001324288.1:c.1099G>A, NM_001324285.2:c.1333G>A, NM_001324285.1:c.1333G>A, NM_001324284.2:c.1333G>A, NM_001324284.1:c.1333G>A, NM_001324289.2:c.1099G>A, NM_001324289.1:c.1099G>A, NM_001324283.2:c.1333G>A, NM_001324283.1:c.1333G>A, NM_001324282.2:c.1387G>A, NM_001324282.1:c.1387G>A, NM_001324287.2:c.1150G>A, NM_001324287.1:c.1150G>A, NM_001324286.2:c.1192G>A, NM_001324286.1:c.1192G>A, NR_037774.1:n.1526G>A, NP_003464.1:p.Val495Ile, NP_001311217.1:p.Val367Ile, NP_001311214.1:p.Val445Ile, NP_001311213.1:p.Val445Ile, NP_001311218.1:p.Val367Ile, NP_001311212.1:p.Val445Ile, NP_001311211.1:p.Val463Ile, NP_001311216.1:p.Val384Ile, NP_001311215.1:p.Val398Ile

Select item 140854167919.

rs1408541679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:17704469 (GRCh38)
10:17746468 (GRCh37)
Canonical SPDI:: NC_000010.11:17704468:A:G
Gene:: STAM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.17704469A>G, NC_000010.10:g.17746468A>G, NW_003315932.1:g.133260A>G, XM_011519695.4:c.951A>G, XM_011519695.3:c.951A>G, XM_011519695.2:c.951A>G, XM_011519695.1:c.951A>G, NM_003473.4:c.951A>G, NM_003473.3:c.951A>G, NM_001324288.2:c.567A>G, NM_001324288.1:c.567A>G, NM_001324285.2:c.801A>G, NM_001324285.1:c.801A>G, NM_001324284.2:c.801A>G, NM_001324284.1:c.801A>G, NM_001324289.2:c.567A>G, NM_001324289.1:c.567A>G, NM_001324283.2:c.801A>G, NM_001324283.1:c.801A>G, NM_001324282.2:c.855A>G, NM_001324282.1:c.855A>G, NM_001324287.2:c.618A>G, NM_001324287.1:c.618A>G, NM_001324286.2:c.660A>G, NM_001324286.1:c.660A>G, NR_037774.1:n.994A>G

Select item 140286982020.

rs1402869820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:17693310 (GRCh38)
10:17735309 (GRCh37)
Canonical SPDI:: NC_000010.11:17693309:A:G,NC_000010.11:17693309:A:T
Gene:: STAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000029/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.17693310A>G, NC_000010.11:g.17693310A>T, NC_000010.10:g.17735309A>G, NC_000010.10:g.17735309A>T, NW_003315932.1:g.122101A>G, NW_003315932.1:g.122101A>T, XM_011519695.4:c.533A>G, XM_011519695.4:c.533A>T, XM_011519695.3:c.533A>G, XM_011519695.3:c.533A>T, XM_011519695.2:c.533A>G, XM_011519695.2:c.533A>T, XM_011519695.1:c.533A>G, XM_011519695.1:c.533A>T, NM_003473.4:c.533A>G, NM_003473.4:c.533A>T, NM_003473.3:c.533A>G, NM_003473.3:c.533A>T, NM_001324288.2:c.149A>G, NM_001324288.2:c.149A>T, NM_001324288.1:c.149A>G, NM_001324288.1:c.149A>T, NM_001324285.2:c.383A>G, NM_001324285.2:c.383A>T, NM_001324285.1:c.383A>G, NM_001324285.1:c.383A>T, NM_001324284.2:c.383A>G, NM_001324284.2:c.383A>T, NM_001324284.1:c.383A>G, NM_001324284.1:c.383A>T, NM_001324289.2:c.149A>G, NM_001324289.2:c.149A>T, NM_001324289.1:c.149A>G, NM_001324289.1:c.149A>T, NM_001324283.2:c.383A>G, NM_001324283.2:c.383A>T, NM_001324283.1:c.383A>G, NM_001324283.1:c.383A>T, NM_001324282.2:c.437A>G, NM_001324282.2:c.437A>T, NM_001324282.1:c.437A>G, NM_001324282.1:c.437A>T, NM_001324287.2:c.200A>G, NM_001324287.2:c.200A>T, NM_001324287.1:c.200A>G, NM_001324287.1:c.200A>T, NM_001324286.2:c.242A>G, NM_001324286.2:c.242A>T, NM_001324286.1:c.242A>G, NM_001324286.1:c.242A>T, NR_037774.1:n.576A>G, NR_037774.1:n.576A>T, XP_011517997.1:p.Lys178Arg, XP_011517997.1:p.Lys178Ile, NP_003464.1:p.Lys178Arg, NP_003464.1:p.Lys178Ile, NP_001311217.1:p.Lys50Arg, NP_001311217.1:p.Lys50Ile, NP_001311214.1:p.Lys128Arg, NP_001311214.1:p.Lys128Ile, NP_001311213.1:p.Lys128Arg, NP_001311213.1:p.Lys128Ile, NP_001311218.1:p.Lys50Arg, NP_001311218.1:p.Lys50Ile, NP_001311212.1:p.Lys128Arg, NP_001311212.1:p.Lys128Ile, NP_001311211.1:p.Lys146Arg, NP_001311211.1:p.Lys146Ile, NP_001311216.1:p.Lys67Arg, NP_001311216.1:p.Lys67Ile, NP_001311215.1:p.Lys81Arg, NP_001311215.1:p.Lys81Ile

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