HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112164828C>T , CM000673.2:g.112164828C>T | GRCh38 |
NC_000011.9:g.112035551C>T , CM000673.1:g.112035551C>T | GRCh37 |
NC_000011.8:g.111540761C>T | NCBI36 |
NG_028143.1:g.4290G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000525987.5:n.320-5591C>T | ||
ENST00000531744.5:c.315-5591C>T | ENSP00000456957.1:n.315-5591C>T | |
ENST00000532699.1:c.315-5591C>T | ENSP00000456434.1:n.315-5591C>T |