HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652292G>T , CM000663.2:g.171652292G>T | GRCh38 |
NC_000001.10:g.171621432G>T , CM000663.1:g.171621432G>T | GRCh37 |
NC_000001.9:g.169888055G>T | NCBI36 |
NG_008859.1:g.5342C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.320C>A MANE Select | ENSP00000037502.5:p.Ala107Asp | |
ENST00000638471.1:c.130+190C>A | ENSP00000491206.1:n.130+190C>A | |
ENST00000037502.10:c.320C>A | ENSP00000037502.5:p.Ala107Asp | |
ENST00000614688.1:c.320C>A | ENSP00000478680.1:p.Ala107Asp | |
NM_000261.1:c.320C>A | NP_000252.1:p.Ala107Asp | |
NM_000261.2:c.320C>A MANE Select | NP_000252.1:p.Ala107Asp |