Linked Data
ClinVar Variation Id:
100585
dbSNP Id:
rs115681466
ExAC:
17:6328998 C / A
gnomAD v2:
17-6328998-C-A
gnomAD v3:
17-6425678-C-A
gnomAD v4:
17-6425678-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425678C>A , CM000679.2:g.6425678C>A | GRCh38 |
| NC_000017.10:g.6328998C>A , CM000679.1:g.6328998C>A | GRCh37 |
| NC_000017.9:g.6269722C>A | NCBI36 |
| NG_008474.1:g.14522G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.937G>T MANE Select | ENSP00000370521.3:p.Ala313Ser | |
| ENST00000250087.9:c.748G>T | ENSP00000250087.5:p.Ala250Ser | |
| ENST00000381128.2:c.*809G>T | ENSP00000370520.2:n.*809G>T | |
| ENST00000381129.7:c.937G>T | ENSP00000370521.3:p.Ala313Ser | |
| ENST00000570466.5:c.871G>T | ENSP00000461287.1:p.Ala291Ser | |
| ENST00000570584.5:c.251+8241G>T | ||
| ENST00000574506.5:c.901G>T | ENSP00000458456.1:p.Ala301Ser | |
| ENST00000575265.5:c.*908G>T | ENSP00000459673.1:n.*908G>T | |
| ENST00000576307.5:c.757G>T | ENSP00000459522.1:p.Ala253Ser | |
| ENST00000576776.5:c.865G>T | ENSP00000460827.1:p.Ala289Ser | |
| ENST00000621374.4:c.936G>T | ENSP00000481337.1:p.Trp312Cys | |
| NM_001033054.2:c.748G>T | NP_001028226.1:p.Ala250Ser | |
| NM_001033055.2:c.757G>T | NP_001028227.1:p.Ala253Ser | |
| NM_001285399.2:c.901G>T | NP_001272328.1:p.Ala301Ser | |
| NM_001285400.2:c.871G>T | NP_001272329.1:p.Ala291Ser | |
| NM_001285401.2:c.865G>T | NP_001272330.1:p.Ala289Ser | |
| NM_001285402.1:c.820G>T | NP_001272331.1:p.Ala274Ser | |
| NM_014336.4:c.937G>T | NP_055151.3:p.Ala313Ser | |
| NM_001033054.3:c.748G>T | NP_001028226.1:p.Ala250Ser | |
| NM_001033055.3:c.757G>T | NP_001028227.1:p.Ala253Ser | |
| NM_001285399.3:c.901G>T | NP_001272328.1:p.Ala301Ser | |
| NM_001285400.3:c.871G>T | NP_001272329.1:p.Ala291Ser | |
| NM_001285401.3:c.865G>T | NP_001272330.1:p.Ala289Ser | |
| NM_001285402.2:c.820G>T | NP_001272331.1:p.Ala274Ser | |
| NM_001285403.3:c.*908G>T | NP_001272332.1:n.*908G>T | |
| NM_014336.5:c.937G>T MANE Select | NP_055151.3:p.Ala313Ser | |
| NM_001285403.4:c.*908G>T | NP_001272332.1:n.*908G>T |