HGVS | Genome Assembly |
---|---|
NC_000002.12:g.46375751C>T , CM000664.2:g.46375751C>T | GRCh38 |
NC_000002.11:g.46602890C>T , CM000664.1:g.46602890C>T | GRCh37 |
NC_000002.10:g.46456394C>T | NCBI36 |
NG_016000.1:g.83350C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263734.5:c.948C>T MANE Select | ENSP00000263734.3:p.Tyr316= | |
ENST00000263734.4:c.948C>T | ENSP00000263734.3:p.Tyr316= | |
ENST00000483692.1:n.116C>T | ||
NM_001430.4:c.948C>T | NP_001421.2:p.Tyr316= | |
XM_011532698.1:c.987C>T | XP_011531000.1:p.Tyr329= | |
XM_011532698.2:c.987C>T | XP_011531000.1:p.Tyr329= | |
NM_001430.5:c.948C>T MANE Select | NP_001421.2:p.Tyr316= |