Linked Data
ClinVar Variation Id:
4362
ClinVar RCV Id:
RCV000004610
dbSNP Id:
rs119475043
MyVariant Identifiers:
chr19:g.54123802C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54123802C>A , CM000681.2:g.54123802C>A | GRCh38 |
| NC_000019.8:g.59318993C>A | NCBI36 |
| NG_009759.1:g.13392C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.581C>A MANE Select | ENSP00000324122.4:p.Ala194Glu | |
| ENST00000321030.8:c.581C>A | ENSP00000324122.4:p.Ala194Glu | |
| ENST00000391755.1:c.581C>A | ENSP00000375635.1:p.Ala194Glu | |
| ENST00000419967.5:c.581C>A | ENSP00000405166.2:p.Ala194Glu | |
| ENST00000445124.5:c.581C>A | ENSP00000408980.1:p.Ala194Glu | |
| ENST00000445811.5:c.581C>A | ENSP00000395894.1:p.Ala194Glu | |
| ENST00000447810.5:c.581C>A | ENSP00000395089.1:p.Ala194Glu | |
| ENST00000466404.5:n.451C>A | ||
| ENST00000498612.1:n.364C>A | ||
| NM_015629.3:c.581C>A | NP_056444.3:p.Ala194Glu | |
| XM_006723137.2:c.581C>A | XP_006723200.1:p.Ala194Glu | |
| XR_935789.1:n.630C>A | ||
| XM_006723137.4:c.581C>A | XP_006723200.1:p.Ala194Glu | |
| XR_002958293.1:n.711C>A | ||
| XR_935789.3:n.642C>A | ||
| NM_015629.4:c.581C>A MANE Select | NP_056444.3:p.Ala194Glu |