HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954241T>A , CM000670.2:g.19954241T>A | GRCh38 |
NC_000008.10:g.19811752T>A , CM000670.1:g.19811752T>A | GRCh37 |
NC_000008.9:g.19856032T>A | NCBI36 |
NG_008855.1:g.20171T>A | |
NG_008855.2:g.57525T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.663T>A MANE Select | ENSP00000497642.1:p.Ile221= | |
ENST00000311322.8:c.663T>A | ENSP00000309757.6:p.Ile221= | |
NM_000237.2:c.663T>A | NP_000228.1:p.Ile221= | |
NM_000237.3:c.663T>A MANE Select | NP_000228.1:p.Ile221= |