HGVS | Genome Assembly |
---|---|
NC_000012.12:g.20921188C>T , CM000674.2:g.20921188C>T | GRCh38 |
NC_000012.11:g.21074122C>T , CM000674.1:g.21074122C>T | GRCh37 |
NC_000012.10:g.20965389C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381541.7:c.359+62617C>T | ENSP00000370952.3:n.359+62617C>T | |
ENST00000540229.1:c.1865+19721C>T | ENSP00000441269.1:n.1865+19721C>T | |
NM_001371097.1:c.1865+19721C>T | NP_001358026.1:n.1865+19721C>T |