Linked Data
dbSNP Id:
rs748385161
gnomAD v2:
19-51411719-C-T
gnomAD v4:
19-50908463-C-T
COSMIC:
COSM3378821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908463C>T , CM000681.2:g.50908463C>T | GRCh38 |
| NC_000019.9:g.51411719C>T , CM000681.1:g.51411719C>T | GRCh37 |
| NC_000019.8:g.56103531C>T | NCBI36 |
| NG_012154.2:g.7276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.508G>A MANE Select | ENSP00000326159.1:p.Val170Met | |
| ENST00000324041.5:c.508G>A | ENSP00000326159.1:p.Val170Met | |
| ENST00000431178.2:c.328+116G>A | ENSP00000399448.2:n.328+116G>A | |
| ENST00000593885.1:c.*3G>A | ENSP00000469769.1:n.*3G>A | |
| ENST00000596876.1:n.510G>A | ||
| ENST00000598305.5:c.*3G>A | ENSP00000469963.1:n.*3G>A | |
| ENST00000599865.5:n.444G>A | ||
| ENST00000602148.1:c.520G>A | ENSP00000472091.1:n.520G>A | |
| NM_001302961.1:c.223G>A | NP_001289890.1:p.Val75Met | |
| NM_004917.4:c.508G>A | NP_004908.4:p.Val170Met | |
| NR_126566.1:n.497G>A | ||
| XM_005259441.3:c.223G>A | XP_005259498.2:p.Val75Met | |
| XM_011527545.1:c.*3G>A | XP_011525847.1:n.*3G>A | |
| XM_011527546.1:c.475+116G>A | XP_011525848.1:n.475+116G>A | |
| XM_011527547.1:c.361G>A | XP_011525849.1:p.Val121Met | |
| XM_005259441.4:c.223G>A | XP_005259498.2:p.Val75Met | |
| XM_011527545.3:c.*3G>A | XP_011525847.1:n.*3G>A | |
| XM_011527546.2:c.475+116G>A | XP_011525848.1:n.475+116G>A | |
| NM_001302961.2:c.223G>A | NP_001289890.1:p.Val75Met | |
| NR_126566.2:n.497G>A | ||
| NM_004917.5:c.508G>A MANE Select | NP_004908.4:p.Val170Met |