HGVS | Genome Assembly |
---|---|
NC_000015.10:g.71811480C>G , CM000677.2:g.71811480C>G | GRCh38 |
NC_000015.9:g.72103820C>G , CM000677.1:g.72103820C>G | GRCh37 |
NC_000015.8:g.69890874C>G | NCBI36 |
NG_009113.2:g.5926C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617575.5:c.119-3C>G MANE Select | ENSP00000482504.1:n.119-3C>G | |
ENST00000617575.4:c.119-3C>G | ENSP00000482504.1:n.119-3C>G | |
ENST00000621098.1:c.119-3C>G | ENSP00000479962.1:n.119-3C>G | |
ENST00000621736.4:c.-146-3C>G | ENSP00000479254.1:n.-146-3C>G | |
NM_014249.3:c.119-3C>G | NP_055064.1:n.119-3C>G | |
NM_016346.3:c.119-3C>G | NP_057430.1:n.119-3C>G | |
XM_011521146.1:c.-146-3C>G | XP_011519448.1:n.-146-3C>G | |
NM_014249.4:c.119-3C>G MANE Select | NP_055064.1:n.119-3C>G | |
NM_016346.4:c.119-3C>G | NP_057430.1:n.119-3C>G |