HGVS | Genome Assembly |
---|---|
NC_000012.12:g.91055925C>A , CM000674.2:g.91055925C>A | GRCh38 |
NC_000012.11:g.91449702C>A , CM000674.1:g.91449702C>A | GRCh37 |
NC_000012.10:g.89973833C>A | NCBI36 |
NG_021223.1:g.7430G>T , LRG_538:g.7430G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266719.4:c.357G>T MANE Select | ENSP00000266719.3:p.Gln119His | |
ENST00000266719.3:c.357G>T | ENSP00000266719.3:p.Gln119His | |
NM_007035.3:c.357G>T , LRG_538t1:c.357G>T | NP_008966.1:p.Gln119His | |
XM_011537781.1:c.357G>T | XP_011536083.1:p.Gln119His | |
NM_007035.4:c.357G>T MANE Select | NP_008966.1:p.Gln119His |