HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74685379C>T , CM000667.2:g.74685379C>T | GRCh38 |
NC_000005.9:g.73981204C>T , CM000667.1:g.73981204C>T | GRCh37 |
NC_000005.8:g.74016960C>T | NCBI36 |
NG_009770.1:g.5236C>T | |
NG_009770.2:g.50357C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261416.12:c.119C>T MANE Select | ENSP00000261416.7:p.Ala40Val | |
ENST00000261416.11:c.119C>T | ENSP00000261416.7:p.Ala40Val | |
ENST00000511181.5:c.-376-3949C>T | ENSP00000426285.1:n.-376-3949C>T | |
ENST00000513079.5:n.184C>T | ||
ENST00000515528.1:n.174C>T | ||
NM_000521.3:c.119C>T | NP_000512.1:p.Ala40Val | |
NM_001292004.1:c.-376-3949C>T | NP_001278933.1:n.-376-3949C>T | |
NM_000521.4:c.119C>T MANE Select | NP_000512.2:p.Ala40Val | |
NM_001292004.2:c.-376-3949C>T | NP_001278933.1:n.-376-3949C>T |