HGVS | Genome Assembly |
---|---|
NC_000023.11:g.68829958A>G , CM000685.2:g.68829958A>G | GRCh38 |
NC_000023.10:g.68049801A>G , CM000685.1:g.68049801A>G | GRCh37 |
NC_000023.9:g.67966526A>G | NCBI36 |
NG_008887.1:g.5962A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000204961.5:c.128+54A>G MANE Select | ENSP00000204961.4:n.128+54A>G | |
ENST00000204961.4:c.128+54A>G | ENSP00000204961.4:n.128+54A>G | |
NM_004429.4:c.128+54A>G | NP_004420.1:n.128+54A>G | |
NM_004429.5:c.128+54A>G MANE Select | NP_004420.1:n.128+54A>G |