Linked Data
dbSNP Id:
rs778067704
ExAC:
21:45709596 G / A
gnomAD v2:
21-45709596-G-A
gnomAD v3:
21-44289713-G-A
gnomAD v4:
21-44289713-G-A
COSMIC:
COSM1031243
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289713G>A , CM000683.2:g.44289713G>A | GRCh38 |
| NC_000021.8:g.45709596G>A , CM000683.1:g.45709596G>A | GRCh37 |
| NC_000021.7:g.44534024G>A | NCBI36 |
| NG_009556.1:g.8834G>A , LRG_18:g.8834G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.709G>A MANE Select | ENSP00000291582.5:p.Glu237Lys | |
| ENST00000291582.5:c.709G>A | ENSP00000291582.5:p.Glu237Lys | |
| ENST00000527919.5:n.1442G>A | ||
| ENST00000530812.5:n.2459G>A | ||
| NM_000383.3:c.709G>A | NP_000374.1:p.Glu237Lys | |
| XM_011529551.1:c.709G>A | XP_011527853.1:p.Glu237Lys | |
| NM_000383.4:c.709G>A MANE Select | NP_000374.1:p.Glu237Lys |