HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954337A>T , CM000670.2:g.19954337A>T | GRCh38 |
NC_000008.10:g.19811848A>T , CM000670.1:g.19811848A>T | GRCh37 |
NC_000008.9:g.19856128A>T | NCBI36 |
NG_008855.1:g.20267A>T | |
NG_008855.2:g.57621A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.759A>T MANE Select | ENSP00000497642.1:p.Ala253= | |
ENST00000311322.8:c.759A>T | ENSP00000309757.6:p.Ala253= | |
NM_000237.2:c.759A>T | NP_000228.1:p.Ala253= | |
NM_000237.3:c.759A>T MANE Select | NP_000228.1:p.Ala253= |