Linked Data
dbSNP Id:
rs1364164206
gnomAD v2:
8-55540256-G-A
gnomAD v4:
8-54627696-G-A
COSMIC:
COSM1737017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54627696G>A , CM000670.2:g.54627696G>A | GRCh38 |
| NC_000008.10:g.55540256G>A , CM000670.1:g.55540256G>A | GRCh37 |
| NC_000008.9:g.55702809G>A | NCBI36 |
| NG_009840.1:g.16630G>A | |
| NG_009840.2:g.16630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.3814G>A MANE Select | ENSP00000220676.1:p.Glu1272Lys | |
| ENST00000636932.1:c.787+5408G>A | ENSP00000489857.1:n.787+5408G>A | |
| ENST00000637698.1:c.787+5408G>A | ENSP00000490104.1:n.787+5408G>A | |
| ENST00000220676.1:c.3814G>A | ENSP00000220676.1:p.Glu1272Lys | |
| NM_006269.1:c.3814G>A | NP_006260.1:p.Glu1272Lys | |
| XM_017013721.1:c.3835G>A | XP_016869210.1:p.Glu1279Lys | |
| XM_017013722.1:c.3814G>A | XP_016869211.1:p.Glu1272Lys | |
| NM_001375654.1:c.787+5408G>A | NP_001362583.1:n.787+5408G>A | |
| NM_006269.2:c.3814G>A MANE Select | NP_006260.1:p.Glu1272Lys |