HGVS | Genome Assembly |
---|---|
NC_000004.12:g.106932812C>A , CM000666.2:g.106932812C>A | GRCh38 |
NC_000004.11:g.107853969C>A , CM000666.1:g.107853969C>A | GRCh37 |
NC_000004.10:g.108073418C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000285311.8:c.223-6863G>T MANE Select | ENSP00000285311.3:n.223-6863G>T | |
ENST00000285311.7:c.223-6863G>T | ENSP00000285311.3:n.223-6863G>T | |
ENST00000510463.1:c.85-6863G>T | ENSP00000423797.1:n.85-6863G>T | |
ENST00000510534.1:n.444-6863G>T | ||
ENST00000513208.5:c.-78-6863G>T | ENSP00000421255.1:n.-78-6863G>T | |
NM_014421.2:c.223-6863G>T | NP_055236.1:n.223-6863G>T | |
NM_014421.3:c.223-6863G>T MANE Select | NP_055236.1:n.223-6863G>T |