Linked Data
dbSNP Id:
rs768759410
ExAC:
19:41930343 G / A
gnomAD v2:
19-41930343-G-A
gnomAD v3:
19-41424438-G-A
gnomAD v4:
19-41424438-G-A
COSMIC:
COSM5458745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424438G>A , CM000681.2:g.41424438G>A | GRCh38 |
| NC_000019.9:g.41930343G>A , CM000681.1:g.41930343G>A | GRCh37 |
| NC_000019.8:g.46622183G>A | NCBI36 |
| NG_013004.1:g.31650G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1168G>A MANE Select | ENSP00000269980.2:p.Val390Met | |
| ENST00000269980.6:c.1168G>A | ENSP00000269980.2:p.Val390Met | |
| ENST00000457836.6:c.1177G>A | ENSP00000416000.2:p.Val393Met | |
| ENST00000540732.3:c.1270G>A | ENSP00000443246.1:p.Val424Met | |
| ENST00000544905.1:c.62-64G>A | ||
| ENST00000595085.5:c.922+1741G>A | ENSP00000471150.2:n.922+1741G>A | |
| NM_000709.3:c.1168G>A | NP_000700.1:p.Val390Met | |
| NM_001164783.1:c.1165G>A | NP_001158255.1:p.Val389Met | |
| NM_000709.4:c.1168G>A MANE Select | NP_000700.1:p.Val390Met | |
| NM_001164783.2:c.1165G>A | NP_001158255.1:p.Val389Met |