Linked Data
ClinVar Variation Id:
1985
ClinVar RCV Id:
RCV000002062
dbSNP Id:
rs121434355
ExAC:
13:39358846 G / A
gnomAD v2:
13-39358846-G-A
gnomAD v3:
13-38784709-G-A
gnomAD v4:
13-38784709-G-A
COSMIC:
COSM3885320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38784709G>A , CM000675.2:g.38784709G>A | GRCh38 |
| NC_000013.10:g.39358846G>A , CM000675.1:g.39358846G>A | GRCh37 |
| NC_000013.9:g.38256846G>A | NCBI36 |
| NG_008125.2:g.102674G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280481.9:c.5920G>A MANE Select | ENSP00000280481.7:p.Glu1974Lys | |
| ENST00000280481.8:c.5920G>A | ENSP00000280481.7:p.Glu1974Lys | |
| NM_207361.5:c.5920G>A | NP_997244.4:p.Glu1974Lys | |
| XM_011535057.1:c.5920G>A | XP_011533359.1:p.Glu1974Lys | |
| XR_941571.1:n.6228G>A | ||
| XR_941571.2:n.6224G>A | ||
| NM_207361.6:c.5920G>A MANE Select | NP_997244.4:p.Glu1974Lys |