SNP Links for Protein (Select 208610044) - SNP

Links from Protein

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Select item 14908303471.

rs1490830347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1496770 (GRCh38)
17:1400064 (GRCh37)
Canonical SPDI:: NC_000017.11:1496769:G:C
Gene:: INPP5K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.1496770G>C, NC_000017.10:g.1400064G>C, NG_047063.1:g.938C>G, NG_029891.1:g.25119C>G, NM_016532.4:c.997C>G, NM_016532.3:c.997C>G, NM_130766.3:c.769C>G, NM_130766.2:c.769C>G, NM_001135642.2:c.769C>G, NM_001135642.1:c.769C>G, XM_011523934.2:c.769C>G, XM_011523934.1:c.769C>G, XM_024450802.2:c.769C>G, XM_024450802.1:c.769C>G, XM_047436294.1:c.721C>G, NP_057616.2:p.Leu333Val, NP_570122.1:p.Leu257Val, NP_001129114.1:p.Leu257Val, XP_011522236.1:p.Leu257Val, XP_024306570.1:p.Leu257Val, XP_047292250.1:p.Leu241Val

Select item 14876932372.

rs1487693237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1496117 (GRCh38)
17:1399411 (GRCh37)
Canonical SPDI:: NC_000017.11:1496116:G:A
Gene:: INPP5K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1496117G>A, NC_000017.10:g.1399411G>A, NG_047063.1:g.1591C>T, NG_029891.1:g.25772C>T, NM_016532.4:c.1233C>T, NM_016532.3:c.1233C>T, NM_130766.3:c.1005C>T, NM_130766.2:c.1005C>T, NM_001135642.2:c.1005C>T, NM_001135642.1:c.1005C>T, XM_011523934.2:c.1005C>T, XM_011523934.1:c.1005C>T, XM_024450802.2:c.1005C>T, XM_024450802.1:c.1005C>T, XM_047436294.1:c.957C>T

Select item 14796725933.

rs1479672593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1509212 (GRCh38)
17:1412506 (GRCh37)
Canonical SPDI:: NC_000017.11:1509211:C:T
Gene:: INPP5K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1509212C>T, NC_000017.10:g.1412506C>T, NG_029891.1:g.12677G>A, NM_016532.4:c.520G>A, NM_016532.3:c.520G>A, NM_130766.3:c.292G>A, NM_130766.2:c.292G>A, NM_001135642.2:c.292G>A, NM_001135642.1:c.292G>A, XM_011523934.2:c.292G>A, XM_011523934.1:c.292G>A, XM_024450802.2:c.292G>A, XM_024450802.1:c.292G>A, XM_047436294.1:c.244G>A, NP_057616.2:p.Glu174Lys, NP_570122.1:p.Glu98Lys, NP_001129114.1:p.Glu98Lys, XP_011522236.1:p.Glu98Lys, XP_024306570.1:p.Glu98Lys, XP_047292250.1:p.Glu82Lys

Select item 14790225984.

rs1479022598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:1496395 (GRCh38)
17:1399689 (GRCh37)
Canonical SPDI:: NC_000017.11:1496394:A:G
Gene:: INPP5K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1496395A>G, NC_000017.10:g.1399689A>G, NG_047063.1:g.1313T>C, NG_029891.1:g.25494T>C, NM_016532.4:c.1109T>C, NM_016532.3:c.1109T>C, NM_130766.3:c.881T>C, NM_130766.2:c.881T>C, NM_001135642.2:c.881T>C, NM_001135642.1:c.881T>C, XM_011523934.2:c.881T>C, XM_011523934.1:c.881T>C, XM_024450802.2:c.881T>C, XM_024450802.1:c.881T>C, XM_047436294.1:c.833T>C, NP_057616.2:p.Leu370Pro, NP_570122.1:p.Leu294Pro, NP_001129114.1:p.Leu294Pro, XP_011522236.1:p.Leu294Pro, XP_024306570.1:p.Leu294Pro, XP_047292250.1:p.Leu278Pro

Select item 14778002565.

rs1477800256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1509326 (GRCh38)
17:1412620 (GRCh37)
Canonical SPDI:: NC_000017.11:1509325:G:C
Gene:: INPP5K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.1509326G>C, NC_000017.10:g.1412620G>C, NG_029891.1:g.12563C>G, NM_016532.4:c.406C>G, NM_016532.3:c.406C>G, NM_130766.3:c.178C>G, NM_130766.2:c.178C>G, NM_001135642.2:c.178C>G, NM_001135642.1:c.178C>G, XM_011523934.2:c.178C>G, XM_011523934.1:c.178C>G, XM_024450802.2:c.178C>G, XM_024450802.1:c.178C>G, XM_047436294.1:c.130C>G, NP_057616.2:p.Leu136Val, NP_570122.1:p.Leu60Val, NP_001129114.1:p.Leu60Val, XP_011522236.1:p.Leu60Val, XP_024306570.1:p.Leu60Val, XP_047292250.1:p.Leu44Val

Select item 14777527386.

rs1477752738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:1496335 (GRCh38)
17:1399629 (GRCh37)
Canonical SPDI:: NC_000017.11:1496334:C:A,NC_000017.11:1496334:C:T
Gene:: INPP5K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1496335C>A, NC_000017.11:g.1496335C>T, NC_000017.10:g.1399629C>A, NC_000017.10:g.1399629C>T, NG_047063.1:g.1373G>T, NG_047063.1:g.1373G>A, NG_029891.1:g.25554G>T, NG_029891.1:g.25554G>A, NM_016532.4:c.1169G>T, NM_016532.4:c.1169G>A, NM_016532.3:c.1169G>T, NM_016532.3:c.1169G>A, NM_130766.3:c.941G>T, NM_130766.3:c.941G>A, NM_130766.2:c.941G>T, NM_130766.2:c.941G>A, NM_001135642.2:c.941G>T, NM_001135642.2:c.941G>A, NM_001135642.1:c.941G>T, NM_001135642.1:c.941G>A, XM_011523934.2:c.941G>T, XM_011523934.2:c.941G>A, XM_011523934.1:c.941G>T, XM_011523934.1:c.941G>A, XM_024450802.2:c.941G>T, XM_024450802.2:c.941G>A, XM_024450802.1:c.941G>T, XM_024450802.1:c.941G>A, XM_047436294.1:c.893G>T, XM_047436294.1:c.893G>A, NP_057616.2:p.Ser390Ile, NP_057616.2:p.Ser390Asn, NP_570122.1:p.Ser314Ile, NP_570122.1:p.Ser314Asn, NP_001129114.1:p.Ser314Ile, NP_001129114.1:p.Ser314Asn, XP_011522236.1:p.Ser314Ile, XP_011522236.1:p.Ser314Asn, XP_024306570.1:p.Ser314Ile, XP_024306570.1:p.Ser314Asn, XP_047292250.1:p.Ser298Ile, XP_047292250.1:p.Ser298Asn

Select item 14725492777.

rs1472549277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:1496329 (GRCh38)
17:1399623 (GRCh37)
Canonical SPDI:: NC_000017.11:1496328:T:C
Gene:: INPP5K (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.1496329T>C, NC_000017.10:g.1399623T>C, NG_047063.1:g.1379A>G, NG_029891.1:g.25560A>G, NM_016532.4:c.1175A>G, NM_016532.3:c.1175A>G, NM_130766.3:c.947A>G, NM_130766.2:c.947A>G, NM_001135642.2:c.947A>G, NM_001135642.1:c.947A>G, XM_011523934.2:c.947A>G, XM_011523934.1:c.947A>G, XM_024450802.2:c.947A>G, XM_024450802.1:c.947A>G, XM_047436294.1:c.899A>G, NP_057616.2:p.Asn392Ser, NP_570122.1:p.Asn316Ser, NP_001129114.1:p.Asn316Ser, XP_011522236.1:p.Asn316Ser, XP_024306570.1:p.Asn316Ser, XP_047292250.1:p.Asn300Ser

Select item 14711349408.

rs1471134940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1496705 (GRCh38)
17:1399999 (GRCh37)
Canonical SPDI:: NC_000017.11:1496704:G:A
Gene:: INPP5K (Varview)
Functional Consequence:: synonymous_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_000017.11:g.1496705G>A, NC_000017.10:g.1399999G>A, NG_047063.1:g.1003C>T, NG_029891.1:g.25184C>T, NM_016532.4:c.1062C>T, NM_016532.3:c.1062C>T, NM_130766.3:c.834C>T, NM_130766.2:c.834C>T, NM_001135642.2:c.834C>T, NM_001135642.1:c.834C>T, XM_011523934.2:c.834C>T, XM_011523934.1:c.834C>T, XM_024450802.2:c.834C>T, XM_024450802.1:c.834C>T, XM_047436294.1:c.786C>T

Select item 14711169959.

rs1471116995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:1507069 (GRCh38)
17:1410363 (GRCh37)
Canonical SPDI:: NC_000017.11:1507068:A:G
Gene:: INPP5K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1507069A>G, NC_000017.10:g.1410363A>G, NG_029891.1:g.14820T>C, NM_016532.4:c.687T>C, NM_016532.3:c.687T>C, NM_130766.3:c.459T>C, NM_130766.2:c.459T>C, NM_001135642.2:c.459T>C, NM_001135642.1:c.459T>C, XM_011523934.2:c.459T>C, XM_011523934.1:c.459T>C, XM_024450802.2:c.459T>C, XM_024450802.1:c.459T>C, XM_047436294.1:c.411T>C

Select item 147075501610.

rs1470755016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:1509247 (GRCh38)
17:1412541 (GRCh37)
Canonical SPDI:: NC_000017.11:1509246:T:C
Gene:: INPP5K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.1509247T>C, NC_000017.10:g.1412541T>C, NG_029891.1:g.12642A>G, NM_016532.4:c.485A>G, NM_016532.3:c.485A>G, NM_130766.3:c.257A>G, NM_130766.2:c.257A>G, NM_001135642.2:c.257A>G, NM_001135642.1:c.257A>G, XM_011523934.2:c.257A>G, XM_011523934.1:c.257A>G, XM_024450802.2:c.257A>G, XM_024450802.1:c.257A>G, XM_047436294.1:c.209A>G, NP_057616.2:p.Glu162Gly, NP_570122.1:p.Glu86Gly, NP_001129114.1:p.Glu86Gly, XP_011522236.1:p.Glu86Gly, XP_024306570.1:p.Glu86Gly, XP_047292250.1:p.Glu70Gly

Select item 147048431111.

rs1470484311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1498053 (GRCh38)
17:1401347 (GRCh37)
Canonical SPDI:: NC_000017.11:1498052:G:A
Gene:: INPP5K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1498053G>A, NC_000017.10:g.1401347G>A, NG_029891.1:g.23836C>T, NM_016532.4:c.846C>T, NM_016532.3:c.846C>T, NM_130766.3:c.618C>T, NM_130766.2:c.618C>T, NM_001135642.2:c.618C>T, NM_001135642.1:c.618C>T, XM_011523934.2:c.618C>T, XM_011523934.1:c.618C>T, XM_024450802.2:c.618C>T, XM_024450802.1:c.618C>T, XM_047436294.1:c.570C>T

Select item 147032768712.

rs1470327687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1509312 (GRCh38)
17:1412606 (GRCh37)
Canonical SPDI:: NC_000017.11:1509311:G:A
Gene:: INPP5K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1509312G>A, NC_000017.10:g.1412606G>A, NG_029891.1:g.12577C>T, NM_016532.4:c.420C>T, NM_016532.3:c.420C>T, NM_130766.3:c.192C>T, NM_130766.2:c.192C>T, NM_001135642.2:c.192C>T, NM_001135642.1:c.192C>T, XM_011523934.2:c.192C>T, XM_011523934.1:c.192C>T, XM_024450802.2:c.192C>T, XM_024450802.1:c.192C>T, XM_047436294.1:c.144C>T

Select item 146857598213.

rs1468575982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:1508175 (GRCh38)
17:1411469 (GRCh37)
Canonical SPDI:: NC_000017.11:1508174:C:A
Gene:: INPP5K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.1508175C>A, NC_000017.10:g.1411469C>A, NG_029891.1:g.13714G>T, NM_016532.4:c.606G>T, NM_016532.3:c.606G>T, NM_130766.3:c.378G>T, NM_130766.2:c.378G>T, NM_001135642.2:c.378G>T, NM_001135642.1:c.378G>T, XM_011523934.2:c.378G>T, XM_011523934.1:c.378G>T, XM_024450802.2:c.378G>T, XM_024450802.1:c.378G>T, XM_047436294.1:c.330G>T, NP_057616.2:p.Leu202Phe, NP_570122.1:p.Leu126Phe, NP_001129114.1:p.Leu126Phe, XP_011522236.1:p.Leu126Phe, XP_024306570.1:p.Leu126Phe, XP_047292250.1:p.Leu110Phe

Select item 146799066914.

rs1467990669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1507079 (GRCh38)
17:1410373 (GRCh37)
Canonical SPDI:: NC_000017.11:1507078:G:A
Gene:: INPP5K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1507079G>A, NC_000017.10:g.1410373G>A, NG_029891.1:g.14810C>T, NM_016532.4:c.677C>T, NM_016532.3:c.677C>T, NM_130766.3:c.449C>T, NM_130766.2:c.449C>T, NM_001135642.2:c.449C>T, NM_001135642.1:c.449C>T, XM_011523934.2:c.449C>T, XM_011523934.1:c.449C>T, XM_024450802.2:c.449C>T, XM_024450802.1:c.449C>T, XM_047436294.1:c.401C>T, NP_057616.2:p.Ala226Val, NP_570122.1:p.Ala150Val, NP_001129114.1:p.Ala150Val, XP_011522236.1:p.Ala150Val, XP_024306570.1:p.Ala150Val, XP_047292250.1:p.Ala134Val

Select item 146448314815.

rs1464483148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1496764 (GRCh38)
17:1400058 (GRCh37)
Canonical SPDI:: NC_000017.11:1496763:G:C
Gene:: INPP5K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1496764G>C, NC_000017.10:g.1400058G>C, NG_047063.1:g.944C>G, NG_029891.1:g.25125C>G, NM_016532.4:c.1003C>G, NM_016532.3:c.1003C>G, NM_130766.3:c.775C>G, NM_130766.2:c.775C>G, NM_001135642.2:c.775C>G, NM_001135642.1:c.775C>G, XM_011523934.2:c.775C>G, XM_011523934.1:c.775C>G, XM_024450802.2:c.775C>G, XM_024450802.1:c.775C>G, XM_047436294.1:c.727C>G, NP_057616.2:p.Pro335Ala, NP_570122.1:p.Pro259Ala, NP_001129114.1:p.Pro259Ala, XP_011522236.1:p.Pro259Ala, XP_024306570.1:p.Pro259Ala, XP_047292250.1:p.Pro243Ala

Select item 146372424116.

rs1463724241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1498121 (GRCh38)
17:1401415 (GRCh37)
Canonical SPDI:: NC_000017.11:1498120:C:T
Gene:: INPP5K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1498121C>T, NC_000017.10:g.1401415C>T, NG_029891.1:g.23768G>A, NM_016532.4:c.778G>A, NM_016532.3:c.778G>A, NM_130766.3:c.550G>A, NM_130766.2:c.550G>A, NM_001135642.2:c.550G>A, NM_001135642.1:c.550G>A, XM_011523934.2:c.550G>A, XM_011523934.1:c.550G>A, XM_024450802.2:c.550G>A, XM_024450802.1:c.550G>A, XM_047436294.1:c.502G>A, NP_057616.2:p.Glu260Lys, NP_570122.1:p.Glu184Lys, NP_001129114.1:p.Glu184Lys, XP_011522236.1:p.Glu184Lys, XP_024306570.1:p.Glu184Lys, XP_047292250.1:p.Glu168Lys

Select item 146366547317.

rs1463665473 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 17:1497954 (GRCh38)
17:1401249 (GRCh37)
Canonical SPDI:: NC_000017.11:1497954:GAGA:GAGAGA
Gene:: INPP5K (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGA=0./0 (ALFA)
GA=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1497955GA[3], NC_000017.10:g.1401249GA[3], NG_029891.1:g.23931TC[3], NM_016532.4:c.943_944dup, NM_016532.3:c.943_944dup, NM_130766.3:c.715_716dup, NM_130766.2:c.715_716dup, NM_001135642.2:c.715_716dup, NM_001135642.1:c.715_716dup, XM_011523934.2:c.715_716dup, XM_011523934.1:c.715_716dup, XM_024450802.2:c.715_716dup, XM_024450802.1:c.715_716dup, XM_047436294.1:c.667_668dup, NP_057616.2:p.Gly316fs, NP_570122.1:p.Gly240fs, NP_001129114.1:p.Gly240fs, XP_011522236.1:p.Gly240fs, XP_024306570.1:p.Gly240fs, XP_047292250.1:p.Gly224fs

Select item 146349119618.

rs1463491196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1498111 (GRCh38)
17:1401405 (GRCh37)
Canonical SPDI:: NC_000017.11:1498110:C:T
Gene:: INPP5K (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.1498111C>T, NC_000017.10:g.1401405C>T, NG_029891.1:g.23778G>A, NM_016532.4:c.788G>A, NM_016532.3:c.788G>A, NM_130766.3:c.560G>A, NM_130766.2:c.560G>A, NM_001135642.2:c.560G>A, NM_001135642.1:c.560G>A, XM_011523934.2:c.560G>A, XM_011523934.1:c.560G>A, XM_024450802.2:c.560G>A, XM_024450802.1:c.560G>A, XM_047436294.1:c.512G>A, NP_057616.2:p.Arg263His, NP_570122.1:p.Arg187His, NP_001129114.1:p.Arg187His, XP_011522236.1:p.Arg187His, XP_024306570.1:p.Arg187His, XP_047292250.1:p.Arg171His

Select item 146159937919.

rs1461599379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1513471 (GRCh38)
17:1416765 (GRCh37)
Canonical SPDI:: NC_000017.11:1513470:G:A
Gene:: INPP5K (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.1513471G>A, NC_000017.10:g.1416765G>A, NG_029891.1:g.8418C>T, NM_016532.4:c.243C>T, NM_016532.3:c.243C>T, NM_130766.3:c.15C>T, NM_130766.2:c.15C>T, NM_001135642.2:c.15C>T, NM_001135642.1:c.15C>T, XM_011523934.2:c.15C>T, XM_011523934.1:c.15C>T, XM_024450802.2:c.15C>T, XM_024450802.1:c.15C>T

Select item 145967102220.

rs1459671022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:1498011 (GRCh38)
17:1401305 (GRCh37)
Canonical SPDI:: NC_000017.11:1498010:A:C
Gene:: INPP5K (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.1498011A>C, NC_000017.10:g.1401305A>C, NG_029891.1:g.23878T>G, NM_016532.4:c.888T>G, NM_016532.3:c.888T>G, NM_130766.3:c.660T>G, NM_130766.2:c.660T>G, NM_001135642.2:c.660T>G, NM_001135642.1:c.660T>G, XM_011523934.2:c.660T>G, XM_011523934.1:c.660T>G, XM_024450802.2:c.660T>G, XM_024450802.1:c.660T>G, XM_047436294.1:c.612T>G

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