HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112164694A>G , CM000673.2:g.112164694A>G | GRCh38 |
NC_000011.9:g.112035417A>G , CM000673.1:g.112035417A>G | GRCh37 |
NC_000011.8:g.111540627A>G | NCBI36 |
NG_028143.1:g.4424T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000525987.5:n.320-5725A>G | ||
ENST00000531744.5:c.315-5725A>G | ENSP00000456957.1:n.315-5725A>G | |
ENST00000532699.1:c.315-5725A>G | ENSP00000456434.1:n.315-5725A>G |