SNP Links for Protein (Select 119220572) - SNP

Links from Protein

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Select item 14871966351.

rs1487196635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:20320288 (GRCh38)
16:20331610 (GRCh37)
Canonical SPDI:: NC_000016.10:20320287:C:A,NC_000016.10:20320287:C:T
Gene:: GP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.20320288C>A, NC_000016.10:g.20320288C>T, NC_000016.9:g.20331610C>A, NC_000016.9:g.20331610C>T, NM_001502.4:c.832G>T, NM_001502.4:c.832G>A, NM_001502.3:c.832G>T, NM_001502.3:c.832G>A, NM_001502.2:c.832G>T, NM_001502.2:c.832G>A, NM_001007240.3:c.841G>T, NM_001007240.3:c.841G>A, NM_001007240.2:c.841G>T, NM_001007240.2:c.841G>A, NM_001007240.1:c.841G>T, NM_001007240.1:c.841G>A, NM_001007241.3:c.400G>T, NM_001007241.3:c.400G>A, NM_001007241.2:c.400G>T, NM_001007241.2:c.400G>A, NM_001007241.1:c.400G>T, NM_001007241.1:c.400G>A, NM_001007242.3:c.391G>T, NM_001007242.3:c.391G>A, NM_001007242.2:c.391G>T, NM_001007242.2:c.391G>A, NM_001007242.1:c.391G>T, NM_001007242.1:c.391G>A, NM_016295.1:c.370G>T, NM_016295.1:c.370G>A, NP_001493.2:p.Ala278Ser, NP_001493.2:p.Ala278Thr, NP_001007241.2:p.Ala281Ser, NP_001007241.2:p.Ala281Thr, NP_001007242.2:p.Ala134Ser, NP_001007242.2:p.Ala134Thr, NP_001007243.2:p.Ala131Ser, NP_001007243.2:p.Ala131Thr

Select item 14792895512.

rs1479289551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:20315985 (GRCh38)
16:20327307 (GRCh37)
Canonical SPDI:: NC_000016.10:20315984:A:G
Gene:: GP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.20315985A>G, NC_000016.9:g.20327307A>G, NM_001502.4:c.1472T>C, NM_001502.3:c.1472T>C, NM_001502.2:c.1472T>C, NM_001007240.3:c.1481T>C, NM_001007240.2:c.1481T>C, NM_001007240.1:c.1481T>C, NM_001007241.3:c.1040T>C, NM_001007241.2:c.1040T>C, NM_001007241.1:c.1040T>C, NM_001007242.3:c.1031T>C, NM_001007242.2:c.1031T>C, NM_001007242.1:c.1031T>C, NM_016295.1:c.1010T>C, NP_001493.2:p.Val491Ala, NP_001007241.2:p.Val494Ala, NP_001007242.2:p.Val347Ala, NP_001007243.2:p.Val344Ala

Select item 14742632223.

rs1474263222 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 16:20317241 (GRCh38)
16:20328563 (GRCh37)
Canonical SPDI:: NC_000016.10:20317240:C:
Gene:: GP2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.20317241del, NC_000016.9:g.20328563del, NM_001502.4:c.1388del, NM_001502.3:c.1388del, NM_001502.2:c.1388del, NM_001007240.3:c.1397del, NM_001007240.2:c.1397del, NM_001007240.1:c.1397del, NM_001007241.3:c.956del, NM_001007241.2:c.956del, NM_001007241.1:c.956del, NM_001007242.3:c.947del, NM_001007242.2:c.947del, NM_001007242.1:c.947del, NM_016295.1:c.926del, NP_001493.2:p.Cys463fs, NP_001007241.2:p.Cys466fs, NP_001007242.2:p.Cys319fs, NP_001007243.2:p.Cys316fs

Select item 14733441794.

rs1473344179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:20318321 (GRCh38)
16:20329643 (GRCh37)
Canonical SPDI:: NC_000016.10:20318320:C:A
Gene:: GP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.20318321C>A, NC_000016.9:g.20329643C>A, NM_001502.4:c.1117G>T, NM_001502.3:c.1117G>T, NM_001502.2:c.1117G>T, NM_001007240.3:c.1126G>T, NM_001007240.2:c.1126G>T, NM_001007240.1:c.1126G>T, NM_001007241.3:c.685G>T, NM_001007241.2:c.685G>T, NM_001007241.1:c.685G>T, NM_001007242.3:c.676G>T, NM_001007242.2:c.676G>T, NM_001007242.1:c.676G>T, NM_016295.1:c.655G>T, NP_001493.2:p.Val373Phe, NP_001007241.2:p.Val376Phe, NP_001007242.2:p.Val229Phe, NP_001007243.2:p.Val226Phe

Select item 14713775345.

rs1471377534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:20320450 (GRCh38)
16:20331772 (GRCh37)
Canonical SPDI:: NC_000016.10:20320449:G:C
Gene:: GP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.20320450G>C, NC_000016.9:g.20331772G>C, NM_001502.4:c.670C>G, NM_001502.3:c.670C>G, NM_001502.2:c.670C>G, NM_001007240.3:c.679C>G, NM_001007240.2:c.679C>G, NM_001007240.1:c.679C>G, NM_001007241.3:c.238C>G, NM_001007241.2:c.238C>G, NM_001007241.1:c.238C>G, NM_001007242.3:c.229C>G, NM_001007242.2:c.229C>G, NM_001007242.1:c.229C>G, NM_016295.1:c.208C>G, NP_001493.2:p.Leu224Val, NP_001007241.2:p.Leu227Val, NP_001007242.2:p.Leu80Val, NP_001007243.2:p.Leu77Val

Select item 14677285706.

rs1467728570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:20314661 (GRCh38)
16:20325983 (GRCh37)
Canonical SPDI:: NC_000016.10:20314660:A:G
Gene:: GP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.20314661A>G, NC_000016.9:g.20325983A>G, NM_001502.4:c.1542T>C, NM_001502.3:c.1542T>C, NM_001502.2:c.1542T>C, NM_001007240.3:c.1551T>C, NM_001007240.2:c.1551T>C, NM_001007240.1:c.1551T>C, NM_001007241.3:c.1110T>C, NM_001007241.2:c.1110T>C, NM_001007241.1:c.1110T>C, NM_001007242.3:c.1101T>C, NM_001007242.2:c.1101T>C, NM_001007242.1:c.1101T>C, NM_016295.1:c.1080T>C

Select item 14621475827.

rs1462147582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:20317260 (GRCh38)
16:20328582 (GRCh37)
Canonical SPDI:: NC_000016.10:20317259:G:A
Gene:: GP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.20317260G>A, NC_000016.9:g.20328582G>A, NM_001502.4:c.1369C>T, NM_001502.3:c.1369C>T, NM_001502.2:c.1369C>T, NM_001007240.3:c.1378C>T, NM_001007240.2:c.1378C>T, NM_001007240.1:c.1378C>T, NM_001007241.3:c.937C>T, NM_001007241.2:c.937C>T, NM_001007241.1:c.937C>T, NM_001007242.3:c.928C>T, NM_001007242.2:c.928C>T, NM_001007242.1:c.928C>T, NM_016295.1:c.907C>T, NP_001493.2:p.His457Tyr, NP_001007241.2:p.His460Tyr, NP_001007242.2:p.His313Tyr, NP_001007243.2:p.His310Tyr

Select item 14608628258.

rs1460862825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:20317282 (GRCh38)
16:20328604 (GRCh37)
Canonical SPDI:: NC_000016.10:20317281:T:A
Gene:: GP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.20317282T>A, NC_000016.9:g.20328604T>A, NM_001502.4:c.1347A>T, NM_001502.3:c.1347A>T, NM_001502.2:c.1347A>T, NM_001007240.3:c.1356A>T, NM_001007240.2:c.1356A>T, NM_001007240.1:c.1356A>T, NM_001007241.3:c.915A>T, NM_001007241.2:c.915A>T, NM_001007241.1:c.915A>T, NM_001007242.3:c.906A>T, NM_001007242.2:c.906A>T, NM_001007242.1:c.906A>T, NM_016295.1:c.885A>T

Select item 14582114639.

rs1458211463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 16:20319740 (GRCh38)
16:20331062 (GRCh37)
Canonical SPDI:: NC_000016.10:20319739:T:A,NC_000016.10:20319739:T:G
Gene:: GP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.20319740T>A, NC_000016.10:g.20319740T>G, NC_000016.9:g.20331062T>A, NC_000016.9:g.20331062T>G, NM_001502.4:c.887A>T, NM_001502.4:c.887A>C, NM_001502.3:c.887A>T, NM_001502.3:c.887A>C, NM_001502.2:c.887A>T, NM_001502.2:c.887A>C, NM_001007240.3:c.896A>T, NM_001007240.3:c.896A>C, NM_001007240.2:c.896A>T, NM_001007240.2:c.896A>C, NM_001007240.1:c.896A>T, NM_001007240.1:c.896A>C, NM_001007241.3:c.455A>T, NM_001007241.3:c.455A>C, NM_001007241.2:c.455A>T, NM_001007241.2:c.455A>C, NM_001007241.1:c.455A>T, NM_001007241.1:c.455A>C, NM_001007242.3:c.446A>T, NM_001007242.3:c.446A>C, NM_001007242.2:c.446A>T, NM_001007242.2:c.446A>C, NM_001007242.1:c.446A>T, NM_001007242.1:c.446A>C, NM_016295.1:c.425A>T, NM_016295.1:c.425A>C, NP_001493.2:p.Asn296Ile, NP_001493.2:p.Asn296Thr, NP_001007241.2:p.Asn299Ile, NP_001007241.2:p.Asn299Thr, NP_001007242.2:p.Asn152Ile, NP_001007242.2:p.Asn152Thr, NP_001007243.2:p.Asn149Ile, NP_001007243.2:p.Asn149Thr

Select item 145662304410.

rs1456623044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:20319692 (GRCh38)
16:20331014 (GRCh37)
Canonical SPDI:: NC_000016.10:20319691:T:C
Gene:: GP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.20319692T>C, NC_000016.9:g.20331014T>C, NM_001502.4:c.935A>G, NM_001502.3:c.935A>G, NM_001502.2:c.935A>G, NM_001007240.3:c.944A>G, NM_001007240.2:c.944A>G, NM_001007240.1:c.944A>G, NM_001007241.3:c.503A>G, NM_001007241.2:c.503A>G, NM_001007241.1:c.503A>G, NM_001007242.3:c.494A>G, NM_001007242.2:c.494A>G, NM_001007242.1:c.494A>G, NM_016295.1:c.473A>G, NP_001493.2:p.Asn312Ser, NP_001007241.2:p.Asn315Ser, NP_001007242.2:p.Asn168Ser, NP_001007243.2:p.Asn165Ser

Select item 145651731811.

rs1456517318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:20318214 (GRCh38)
16:20329536 (GRCh37)
Canonical SPDI:: NC_000016.10:20318213:G:A
Gene:: GP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.20318214G>A, NC_000016.9:g.20329536G>A, NM_001502.4:c.1224C>T, NM_001502.3:c.1224C>T, NM_001502.2:c.1224C>T, NM_001007240.3:c.1233C>T, NM_001007240.2:c.1233C>T, NM_001007240.1:c.1233C>T, NM_001007241.3:c.792C>T, NM_001007241.2:c.792C>T, NM_001007241.1:c.792C>T, NM_001007242.3:c.783C>T, NM_001007242.2:c.783C>T, NM_001007242.1:c.783C>T, NM_016295.1:c.762C>T

Select item 145337888312.

rs1453378883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:20322973 (GRCh38)
16:20334295 (GRCh37)
Canonical SPDI:: NC_000016.10:20322972:G:A
Gene:: GP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.20322973G>A, NC_000016.9:g.20334295G>A, NM_001502.4:c.542C>T, NM_001502.3:c.542C>T, NM_001502.2:c.542C>T, NM_001007240.3:c.551C>T, NM_001007240.2:c.551C>T, NM_001007240.1:c.551C>T, NM_001007241.3:c.110C>T, NM_001007241.2:c.110C>T, NM_001007241.1:c.110C>T, NM_001007242.3:c.101C>T, NM_001007242.2:c.101C>T, NM_001007242.1:c.101C>T, NM_016295.1:c.80C>T, NP_001493.2:p.Ser181Phe, NP_001007241.2:p.Ser184Phe, NP_001007242.2:p.Ser37Phe, NP_001007243.2:p.Ser34Phe

Select item 145285549313.

rs1452855493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:20319674 (GRCh38)
16:20330996 (GRCh37)
Canonical SPDI:: NC_000016.10:20319673:G:A
Gene:: GP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.20319674G>A, NC_000016.9:g.20330996G>A, NM_001502.4:c.953C>T, NM_001502.3:c.953C>T, NM_001502.2:c.953C>T, NM_001007240.3:c.962C>T, NM_001007240.2:c.962C>T, NM_001007240.1:c.962C>T, NM_001007241.3:c.521C>T, NM_001007241.2:c.521C>T, NM_001007241.1:c.521C>T, NM_001007242.3:c.512C>T, NM_001007242.2:c.512C>T, NM_001007242.1:c.512C>T, NM_016295.1:c.491C>T, NP_001493.2:p.Ala318Val, NP_001007241.2:p.Ala321Val, NP_001007242.2:p.Ala174Val, NP_001007243.2:p.Ala171Val

Select item 145145927414.

rs1451459274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:20317252 (GRCh38)
16:20328574 (GRCh37)
Canonical SPDI:: NC_000016.10:20317251:C:T
Gene:: GP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.20317252C>T, NC_000016.9:g.20328574C>T, NM_001502.4:c.1377G>A, NM_001502.3:c.1377G>A, NM_001502.2:c.1377G>A, NM_001007240.3:c.1386G>A, NM_001007240.2:c.1386G>A, NM_001007240.1:c.1386G>A, NM_001007241.3:c.945G>A, NM_001007241.2:c.945G>A, NM_001007241.1:c.945G>A, NM_001007242.3:c.936G>A, NM_001007242.2:c.936G>A, NM_001007242.1:c.936G>A, NM_016295.1:c.915G>A

Select item 145131185615.

rs1451311856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:20318202 (GRCh38)
16:20329524 (GRCh37)
Canonical SPDI:: NC_000016.10:20318201:A:G
Gene:: GP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000125/4 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.20318202A>G, NC_000016.9:g.20329524A>G, NM_001502.4:c.1236T>C, NM_001502.3:c.1236T>C, NM_001502.2:c.1236T>C, NM_001007240.3:c.1245T>C, NM_001007240.2:c.1245T>C, NM_001007240.1:c.1245T>C, NM_001007241.3:c.804T>C, NM_001007241.2:c.804T>C, NM_001007241.1:c.804T>C, NM_001007242.3:c.795T>C, NM_001007242.2:c.795T>C, NM_001007242.1:c.795T>C, NM_016295.1:c.774T>C

Select item 144993591316.

rs1449935913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:20314691 (GRCh38)
16:20326013 (GRCh37)
Canonical SPDI:: NC_000016.10:20314690:A:G
Gene:: GP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.20314691A>G, NC_000016.9:g.20326013A>G, NM_001502.4:c.1512T>C, NM_001502.3:c.1512T>C, NM_001502.2:c.1512T>C, NM_001007240.3:c.1521T>C, NM_001007240.2:c.1521T>C, NM_001007240.1:c.1521T>C, NM_001007241.3:c.1080T>C, NM_001007241.2:c.1080T>C, NM_001007241.1:c.1080T>C, NM_001007242.3:c.1071T>C, NM_001007242.2:c.1071T>C, NM_001007242.1:c.1071T>C, NM_016295.1:c.1050T>C

Select item 144940540917.

rs1449405409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:20322948 (GRCh38)
16:20334270 (GRCh37)
Canonical SPDI:: NC_000016.10:20322947:C:T
Gene:: GP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.20322948C>T, NC_000016.9:g.20334270C>T, NM_001502.4:c.567G>A, NM_001502.3:c.567G>A, NM_001502.2:c.567G>A, NM_001007240.3:c.576G>A, NM_001007240.2:c.576G>A, NM_001007240.1:c.576G>A, NM_001007241.3:c.135G>A, NM_001007241.2:c.135G>A, NM_001007241.1:c.135G>A, NM_001007242.3:c.126G>A, NM_001007242.2:c.126G>A, NM_001007242.1:c.126G>A, NM_016295.1:c.105G>A

Select item 144767454618.

rs1447674546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:20326355 (GRCh38)
16:20337677 (GRCh37)
Canonical SPDI:: NC_000016.10:20326354:G:A
Gene:: GP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.20326355G>A, NC_000016.9:g.20337677G>A, NM_001502.4:c.77C>T, NM_001502.3:c.77C>T, NM_001502.2:c.77C>T, NM_001007240.3:c.77C>T, NM_001007240.2:c.77C>T, NM_001007240.1:c.77C>T, NM_001007241.3:c.77C>T, NM_001007241.2:c.77C>T, NM_001007241.1:c.77C>T, NM_001007242.3:c.77C>T, NM_001007242.2:c.77C>T, NM_001007242.1:c.77C>T, NM_016295.1:c.56C>T, NP_001493.2:p.Ala26Val, NP_001007241.2:p.Ala26Val, NP_001007242.2:p.Ala26Val, NP_001007243.2:p.Ala26Val

Select item 144718816919.

rs1447188169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:20318393 (GRCh38)
16:20329715 (GRCh37)
Canonical SPDI:: NC_000016.10:20318392:T:A,NC_000016.10:20318392:T:C
Gene:: GP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.20318393T>A, NC_000016.10:g.20318393T>C, NC_000016.9:g.20329715T>A, NC_000016.9:g.20329715T>C, NM_001502.4:c.1045A>T, NM_001502.4:c.1045A>G, NM_001502.3:c.1045A>T, NM_001502.3:c.1045A>G, NM_001502.2:c.1045A>T, NM_001502.2:c.1045A>G, NM_001007240.3:c.1054A>T, NM_001007240.3:c.1054A>G, NM_001007240.2:c.1054A>T, NM_001007240.2:c.1054A>G, NM_001007240.1:c.1054A>T, NM_001007240.1:c.1054A>G, NM_001007241.3:c.613A>T, NM_001007241.3:c.613A>G, NM_001007241.2:c.613A>T, NM_001007241.2:c.613A>G, NM_001007241.1:c.613A>T, NM_001007241.1:c.613A>G, NM_001007242.3:c.604A>T, NM_001007242.3:c.604A>G, NM_001007242.2:c.604A>T, NM_001007242.2:c.604A>G, NM_001007242.1:c.604A>T, NM_001007242.1:c.604A>G, NM_016295.1:c.583A>T, NM_016295.1:c.583A>G, NP_001493.2:p.Ile349Phe, NP_001493.2:p.Ile349Val, NP_001007241.2:p.Ile352Phe, NP_001007241.2:p.Ile352Val, NP_001007242.2:p.Ile205Phe, NP_001007242.2:p.Ile205Val, NP_001007243.2:p.Ile202Phe, NP_001007243.2:p.Ile202Val

Select item 144652948820.

rs1446529488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:20320281 (GRCh38)
16:20331603 (GRCh37)
Canonical SPDI:: NC_000016.10:20320280:G:A
Gene:: GP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.20320281G>A, NC_000016.9:g.20331603G>A, NM_001502.4:c.839C>T, NM_001502.3:c.839C>T, NM_001502.2:c.839C>T, NM_001007240.3:c.848C>T, NM_001007240.2:c.848C>T, NM_001007240.1:c.848C>T, NM_001007241.3:c.407C>T, NM_001007241.2:c.407C>T, NM_001007241.1:c.407C>T, NM_001007242.3:c.398C>T, NM_001007242.2:c.398C>T, NM_001007242.1:c.398C>T, NM_016295.1:c.377C>T, NP_001493.2:p.Ala280Val, NP_001007241.2:p.Ala283Val, NP_001007242.2:p.Ala136Val, NP_001007243.2:p.Ala133Val

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