HGVS | Genome Assembly |
---|---|
NC_000004.12:g.87610826C>A , CM000666.2:g.87610826C>A | GRCh38 |
NC_000004.11:g.88531978C>A , CM000666.1:g.88531978C>A | GRCh37 |
NC_000004.10:g.88751002C>A | NCBI36 |
NG_011595.1:g.7298C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651931.1:c.-28-55C>A MANE Select | ENSP00000498766.1:n.-28-55C>A | |
ENST00000399271.5:c.-28-55C>A | ENSP00000382213.1:n.-28-55C>A | |
NM_014208.3:c.-28-55C>A MANE Select | NP_055023.2:n.-28-55C>A |