HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44456781T>C , CM000683.2:g.44456781T>C | GRCh38 |
NC_000021.8:g.45876664T>C , CM000683.1:g.45876664T>C | GRCh37 |
NC_000021.7:g.44701092T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291592.6:c.137T>C MANE Select | ENSP00000291592.4:p.Val46Ala | |
ENST00000291592.5:c.137T>C | ENSP00000291592.4:p.Val46Ala | |
NM_030891.4:c.137T>C | NP_112153.1:p.Val46Ala | |
NM_030891.5:c.137T>C | NP_112153.1:p.Val46Ala | |
NM_030891.6:c.137T>C MANE Select | NP_112153.1:p.Val46Ala |