HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47325220C>A , CM000672.2:g.47325220C>A | GRCh38 |
NC_000010.10:g.48414142G>T , CM000672.1:g.48414142G>T | GRCh37 |
NC_000010.9:g.48034148G>T | NCBI36 |
NG_033916.1:g.7731C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000581492.3:c.726C>A MANE Select | ENSP00000463051.1:p.Ile242= | |
ENST00000581492.2:c.726C>A | ENSP00000463051.1:p.Ile242= | |
NM_016204.2:c.726C>A | NP_057288.1:p.Ile242= | |
XM_006717761.2:c.726C>A | XP_006717824.1:p.Ile242= | |
NM_016204.3:c.726C>A | NP_057288.1:p.Ile242= | |
NM_016204.4:c.726C>A MANE Select | NP_057288.1:p.Ile242= |