HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782693C>T , CM000663.2:g.58782693C>T | GRCh38 |
NC_000001.10:g.59248365C>T , CM000663.1:g.59248365C>T | GRCh37 |
NC_000001.9:g.59020953C>T | NCBI36 |
NG_047027.1:g.6421G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000710273.1:c.444G>A | ENSP00000518166.1:p.Thr148= | |
ENST00000371222.4:c.378G>A MANE Select | ENSP00000360266.2:p.Thr126= | |
ENST00000678696.1:c.378G>A | ENSP00000503132.1:p.Thr126= | |
ENST00000371222.3:c.378G>A | ENSP00000360266.2:p.Thr126= | |
NM_002228.3:c.378G>A | NP_002219.1:p.Thr126= | |
NM_002228.4:c.378G>A MANE Select | NP_002219.1:p.Thr126= |