HGVS | Genome Assembly |
---|---|
NC_000015.10:g.71811794G>T , CM000677.2:g.71811794G>T | GRCh38 |
NC_000015.9:g.72104134G>T , CM000677.1:g.72104134G>T | GRCh37 |
NC_000015.8:g.69891188G>T | NCBI36 |
NG_009113.2:g.6240G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617575.5:c.274G>T MANE Select | ENSP00000482504.1:p.Val92Leu | |
ENST00000617575.4:c.274G>T | ENSP00000482504.1:p.Val92Leu | |
ENST00000621098.1:c.274G>T | ENSP00000479962.1:p.Val92Leu | |
ENST00000621736.4:c.10G>T | ENSP00000479254.1:p.Val4Leu | |
NM_014249.3:c.274G>T | NP_055064.1:p.Val92Leu | |
NM_016346.3:c.274G>T | NP_057430.1:p.Val92Leu | |
XM_011521146.1:c.10G>T | XP_011519448.1:p.Val4Leu | |
NM_014249.4:c.274G>T MANE Select | NP_055064.1:p.Val92Leu | |
NM_016346.4:c.274G>T | NP_057430.1:p.Val92Leu |