HGVS | Genome Assembly |
---|---|
NC_000012.12:g.91055925C>T , CM000674.2:g.91055925C>T | GRCh38 |
NC_000012.11:g.91449702C>T , CM000674.1:g.91449702C>T | GRCh37 |
NC_000012.10:g.89973833C>T | NCBI36 |
NG_021223.1:g.7430G>A , LRG_538:g.7430G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266719.4:c.357G>A MANE Select | ENSP00000266719.3:p.Gln119= | |
ENST00000266719.3:c.357G>A | ENSP00000266719.3:p.Gln119= | |
NM_007035.3:c.357G>A , LRG_538t1:c.357G>A | NP_008966.1:p.Gln119= | |
XM_011537781.1:c.357G>A | XP_011536083.1:p.Gln119= | |
NM_007035.4:c.357G>A MANE Select | NP_008966.1:p.Gln119= |