Linked Data
ClinVar Variation Id:
553675
dbSNP Id:
rs370981817
ExAC:
2:73828485 C / A
gnomAD v2:
2-73828485-C-A
gnomAD v3:
2-73601358-C-A
gnomAD v4:
2-73601358-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601358C>A , CM000664.2:g.73601358C>A | GRCh38 |
| NC_000002.11:g.73828485C>A , CM000664.1:g.73828485C>A | GRCh37 |
| NC_000002.10:g.73681993C>A | NCBI36 |
| NG_011690.1:g.220606C>A , LRG_741:g.220606C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11655C>A | ENSP00000507671.1:p.Asp3885Glu | |
| ENST00000682801.1:c.11167-827C>A | ENSP00000507862.1:n.11167-827C>A | |
| ENST00000682859.1:c.11655C>A | ENSP00000508222.1:p.Asp3885Glu | |
| ENST00000683791.1:c.4741C>A | ||
| ENST00000684460.1:c.8936C>A | ||
| ENST00000684548.1:c.11655C>A | ENSP00000507421.1:p.Asp3885Glu | |
| ENST00000684590.1:c.6102C>A | ENSP00000507376.1:p.Asp2034Glu | |
| ENST00000684656.1:c.9120C>A | ||
| ENST00000613296.6:c.12036C>A MANE Select | ENSP00000482968.1:p.Asp4012Glu | |
| ENST00000651057.1:c.2190C>A | ENSP00000498504.1:p.Asp730Glu | |
| ENST00000651434.1:c.3392C>A | ||
| ENST00000651750.1:c.1260+477C>A | ||
| ENST00000652487.1:c.3207C>A | ||
| ENST00000464408.3:n.211C>A | ||
| ENST00000484298.5:c.11910C>A | ENSP00000478155.1:p.Asp3970Glu | |
| ENST00000613296.4:c.12036C>A | ENSP00000482968.1:p.Asp4012Glu | |
| ENST00000620466.4:n.5839C>A | ||
| NM_015120.4:c.12039C>A , LRG_741t1:c.12039C>A | NP_055935.4:p.Asp4013Glu | |
| NM_001378454.1:c.12036C>A MANE Select | NP_001365383.1:p.Asp4012Glu |