HGVS | Genome Assembly |
---|---|
NC_000002.12:g.219060524C>T , CM000664.2:g.219060524C>T | GRCh38 |
NC_000002.11:g.219925246C>T , CM000664.1:g.219925246C>T | GRCh37 |
NC_000002.10:g.219633490C>T | NCBI36 |
NG_016741.1:g.4993G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295731.7:c.-57G>A MANE Select | ENSP00000295731.5:n.-57G>A | |
NM_002181.4:c.-57G>A MANE Select | NP_002172.2:n.-57G>A |