HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652112G>A , CM000663.2:g.171652112G>A | GRCh38 |
NC_000001.10:g.171621252G>A , CM000663.1:g.171621252G>A | GRCh37 |
NC_000001.9:g.169887875G>A | NCBI36 |
NG_008859.1:g.5522C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.500C>T MANE Select | ENSP00000037502.5:p.Ala167Val | |
ENST00000638471.1:c.130+370C>T | ENSP00000491206.1:n.130+370C>T | |
ENST00000037502.10:c.500C>T | ENSP00000037502.5:p.Ala167Val | |
ENST00000614688.1:c.500C>T | ENSP00000478680.1:p.Ala167Val | |
NM_000261.1:c.500C>T | NP_000252.1:p.Ala167Val | |
NM_000261.2:c.500C>T MANE Select | NP_000252.1:p.Ala167Val |