HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130872202T>C , CM000671.2:g.130872202T>C | GRCh38 |
NC_000009.11:g.133747589T>C , CM000671.1:g.133747589T>C | GRCh37 |
NC_000009.10:g.132737410T>C | NCBI36 |
NG_012034.1:g.163322T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372348.9:c.953T>C | ENSP00000361423.2:p.Val318Ala | |
ENST00000318560.6:c.896T>C MANE Select | ENSP00000323315.5:p.Val299Ala | |
ENST00000372348.7:c.953T>C | ENSP00000361423.2:p.Val318Ala | |
ENST00000318560.5:c.896T>C | ENSP00000323315.5:p.Val299Ala | |
ENST00000372348.6:c.953T>C | ENSP00000361423.2:p.Val318Ala | |
NM_005157.5:c.896T>C | NP_005148.2:p.Val299Ala | |
NM_007313.2:c.953T>C | NP_009297.2:p.Val318Ala | |
NM_005157.6:c.896T>C MANE Select | NP_005148.2:p.Val299Ala | |
NM_007313.3:c.953T>C | NP_009297.2:p.Val318Ala |