HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183389270C>T , CM000663.2:g.183389270C>T | GRCh38 |
NC_000001.10:g.183358405C>T , CM000663.1:g.183358405C>T | GRCh37 |
NC_000001.9:g.181625028C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287713.7:c.85+28913G>A MANE Select | ENSP00000287713.6:n.85+28913G>A | |
ENST00000287713.6:c.85+28913G>A | ENSP00000287713.6:n.85+28913G>A | |
NM_015039.3:c.85+28913G>A | NP_055854.1:n.85+28913G>A | |
NM_015039.4:c.85+28913G>A MANE Select | NP_055854.1:n.85+28913G>A |