HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652403A>G , CM000663.2:g.171652403A>G | GRCh38 |
NC_000001.10:g.171621543A>G , CM000663.1:g.171621543A>G | GRCh37 |
NC_000001.9:g.169888166A>G | NCBI36 |
NG_008859.1:g.5231T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.209T>C MANE Select | ENSP00000037502.5:p.Val70Ala | |
ENST00000638471.1:c.130+79T>C | ENSP00000491206.1:n.130+79T>C | |
ENST00000037502.10:c.209T>C | ENSP00000037502.5:p.Val70Ala | |
ENST00000614688.1:c.209T>C | ENSP00000478680.1:p.Val70Ala | |
NM_000261.1:c.209T>C | NP_000252.1:p.Val70Ala | |
NM_000261.2:c.209T>C MANE Select | NP_000252.1:p.Val70Ala |