HGVS | Genome Assembly |
---|---|
NC_000005.10:g.172333458T>A , CM000667.2:g.172333458T>A | GRCh38 |
NC_000005.9:g.171760462T>A , CM000667.1:g.171760462T>A | GRCh37 |
NC_000005.8:g.171693067T>A | NCBI36 |
NG_027746.1:g.126066A>T | |
NG_027746.2:g.126066A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000636523.1:c.1229-8078A>T | ||
ENST00000519643.5:c.1189-8078A>T | ENSP00000430890.1:n.1189-8078A>T | |
NM_001308175.1:c.1189-8078A>T | NP_001295104.1:n.1189-8078A>T | |
NM_001308175.2:c.1189-8078A>T | NP_001295104.1:n.1189-8078A>T |