HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652142T>A , CM000663.2:g.171652142T>A | GRCh38 |
NC_000001.10:g.171621282T>A , CM000663.1:g.171621282T>A | GRCh37 |
NC_000001.9:g.169887905T>A | NCBI36 |
NG_008859.1:g.5492A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.470A>T MANE Select | ENSP00000037502.5:p.Lys157Met | |
ENST00000638471.1:c.130+340A>T | ENSP00000491206.1:n.130+340A>T | |
ENST00000037502.10:c.470A>T | ENSP00000037502.5:p.Lys157Met | |
ENST00000614688.1:c.470A>T | ENSP00000478680.1:p.Lys157Met | |
NM_000261.1:c.470A>T | NP_000252.1:p.Lys157Met | |
NM_000261.2:c.470A>T MANE Select | NP_000252.1:p.Lys157Met |