Linked Data
ClinVar Variation Id:
363921
dbSNP Id:
rs114655330
ExAC:
8:94800170 C / A
gnomAD v2:
8-94800170-C-A
gnomAD v3:
8-93787942-C-A
gnomAD v4:
8-93787942-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93787942C>A , CM000670.2:g.93787942C>A | GRCh38 |
| NC_000008.10:g.94800170C>A , CM000670.1:g.94800170C>A | GRCh37 |
| NC_000008.9:g.94869346C>A | NCBI36 |
| NG_009190.1:g.38099C>A , LRG_688:g.38099C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1511C>A | ENSP00000314488.4:p.Ser504Tyr | |
| ENST00000409623.8:c.1466C>A | ENSP00000386966.4:p.Ser489Tyr | |
| ENST00000452276.6:c.1511C>A | ENSP00000388671.2:p.Ser504Tyr | |
| ENST00000453906.6:c.629C>A | ENSP00000403035.2:p.Ser210Tyr | |
| ENST00000520680.2:c.1511C>A | ENSP00000428785.2:p.Ser504Tyr | |
| ENST00000521517.6:c.1511C>A | ENSP00000430740.2:p.Ser504Tyr | |
| ENST00000681998.1:c.1332C>A | ENSP00000506773.1:n.1332C>A | |
| ENST00000682036.1:c.629C>A | ENSP00000508390.1:p.Ser210Tyr | |
| ENST00000682577.1:c.1284C>A | ENSP00000506963.1:n.1284C>A | |
| ENST00000682624.1:c.*1085C>A | ENSP00000508343.1:n.*1085C>A | |
| ENST00000682700.1:c.1511C>A | ENSP00000507627.1:p.Ser504Tyr | |
| ENST00000682744.1:n.1049C>A | ||
| ENST00000682804.1:n.1334C>A | ||
| ENST00000682837.1:c.1000C>A | ENSP00000507920.1:n.1000C>A | |
| ENST00000682935.1:n.3561C>A | ||
| ENST00000682984.1:c.1172C>A | ENSP00000507209.1:p.Ser391Tyr | |
| ENST00000683078.1:c.1266C>A | ENSP00000506796.1:n.1266C>A | |
| ENST00000683223.1:c.1243C>A | ENSP00000507685.1:n.1243C>A | |
| ENST00000683238.1:n.2735C>A | ||
| ENST00000683249.1:n.3108C>A | ||
| ENST00000683336.1:c.1332C>A | ENSP00000507695.1:n.1332C>A | |
| ENST00000683362.1:c.1172C>A | ENSP00000506985.1:p.Ser391Tyr | |
| ENST00000683850.1:n.1434C>A | ||
| ENST00000683919.1:c.1441C>A | ENSP00000507617.1:n.1441C>A | |
| ENST00000683953.1:c.1422C>A | ENSP00000508375.1:n.1422C>A | |
| ENST00000684023.1:c.1488C>A | ENSP00000507461.1:n.1488C>A | |
| ENST00000684064.1:c.1202C>A | ENSP00000508192.1:p.Ser401Tyr | |
| ENST00000684089.1:n.3061C>A | ||
| ENST00000684149.1:c.*690C>A | ENSP00000507943.1:n.*690C>A | |
| ENST00000684416.1:n.1470C>A | ||
| ENST00000684540.1:c.1441C>A | ENSP00000507987.1:n.1441C>A | |
| ENST00000453321.8:c.1511C>A MANE Select | ENSP00000389998.3:p.Ser504Tyr | |
| ENST00000323130.7:c.1481C>A | ENSP00000314488.3:p.Ser494Tyr | |
| ENST00000409623.7:c.1268C>A | ENSP00000386966.3:p.Ser423Tyr | |
| ENST00000453321.7:c.1511C>A | ENSP00000389998.3:p.Ser504Tyr | |
| ENST00000474944.5:n.649C>A | ||
| ENST00000520680.1:c.333C>A | ||
| NM_001142301.1:c.1268C>A , LRG_688t2:c.1268C>A | NP_001135773.1:p.Ser423Tyr | |
| NM_153704.5:c.1511C>A , LRG_688t1:c.1511C>A | NP_714915.3:p.Ser504Tyr | |
| NR_024522.1:n.1582C>A | ||
| XM_006716686.2:c.1208C>A | XP_006716749.1:p.Ser403Tyr | |
| XM_006716687.2:c.911C>A | XP_006716750.1:p.Ser304Tyr | |
| XM_011517363.1:c.629C>A | XP_011515665.1:p.Ser210Tyr | |
| XR_428387.1:n.1569C>A | ||
| XR_928360.1:n.1569C>A | ||
| XR_928361.1:n.1569C>A | ||
| XR_928362.1:n.1569C>A | ||
| XM_006716686.4:c.1208C>A | XP_006716749.1:p.Ser403Tyr | |
| XM_011517363.3:c.629C>A | XP_011515665.1:p.Ser210Tyr | |
| XM_024447326.1:c.857C>A | XP_024303094.1:p.Ser286Tyr | |
| XR_001745619.2:n.1552C>A | ||
| XR_428387.2:n.1552C>A | ||
| XR_928360.3:n.1552C>A | ||
| XR_928362.3:n.1552C>A | ||
| NM_153704.6:c.1511C>A MANE Select | NP_714915.3:p.Ser504Tyr | |
| NR_024522.2:n.1532C>A |