HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571193G>C , CM000663.2:g.154571193G>C | GRCh38 |
NC_000001.10:g.154543669G>C , CM000663.1:g.154543669G>C | GRCh37 |
NC_000001.9:g.152810293G>C | NCBI36 |
NG_008027.1:g.8413G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.370G>C MANE Select | ENSP00000357461.3:p.Asp124His | |
ENST00000636034.1:c.370G>C | ENSP00000489703.1:p.Asp124His | |
ENST00000637900.1:c.376G>C | ENSP00000490474.1:p.Asp126His | |
ENST00000368476.3:c.370G>C | ENSP00000357461.3:p.Asp124His | |
NM_000748.2:c.370G>C | NP_000739.1:p.Asp124His | |
XM_017000180.2:c.-9-132G>C | XP_016855669.1:n.-9-132G>C | |
XR_001736952.2:n.622G>C | ||
NM_000748.3:c.370G>C MANE Select | NP_000739.1:p.Asp124His |