HGVS | Genome Assembly |
---|---|
NC_000004.12:g.42962842C>A , CM000666.2:g.42962842C>A | GRCh38 |
NC_000004.11:g.42964859C>A , CM000666.1:g.42964859C>A | GRCh37 |
NC_000004.10:g.42659616C>A | NCBI36 |
NG_027718.1:g.74577C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399770.3:c.385-50C>A MANE Select | ENSP00000382670.2:n.385-50C>A | |
ENST00000399770.2:c.385-50C>A | ENSP00000382670.2:n.385-50C>A | |
NM_001080476.2:c.385-50C>A | NP_001073945.1:n.385-50C>A | |
XM_011513691.1:c.22-50C>A | XP_011511993.1:n.22-50C>A | |
NM_001080476.3:c.385-50C>A MANE Select | NP_001073945.1:n.385-50C>A |