HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445731C>T , CM000663.2:g.15445731C>T | GRCh38 |
NC_000001.10:g.15772226C>T , CM000663.1:g.15772226C>T | GRCh37 |
NC_000001.9:g.15644813C>T | NCBI36 |
NG_009253.1:g.12289C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375949.5:c.774C>T MANE Select | ENSP00000365116.4:p.Tyr258= | |
ENST00000375943.6:c.*228C>T | ENSP00000365110.2:n.*228C>T | |
ENST00000375949.4:c.774C>T | ENSP00000365116.4:p.Tyr258= | |
ENST00000483406.1:n.538C>T | ||
NM_007272.2:c.774C>T | NP_009203.2:p.Tyr258= | |
XM_011540550.1:c.628C>T | XP_011538852.1:p.His210Tyr | |
NM_007272.3:c.774C>T MANE Select | NP_009203.2:p.Tyr258= |