HGVS | Genome Assembly |
---|---|
NC_000008.11:g.70064270C>T , CM000670.2:g.70064270C>T | GRCh38 |
NC_000008.10:g.70976505C>T , CM000670.1:g.70976505C>T | GRCh37 |
NC_000008.9:g.71139059C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276594.3:c.1183+1965G>A MANE Select | ENSP00000276594.2:n.1183+1965G>A | |
ENST00000276594.2:c.1183+1965G>A | ENSP00000276594.2:n.1183+1965G>A | |
NM_024504.3:c.1183+1965G>A | NP_078780.1:n.1183+1965G>A | |
XM_011517572.1:c.418+1965G>A | XP_011515874.1:n.418+1965G>A | |
XM_011517572.2:c.418+1965G>A | XP_011515874.1:n.418+1965G>A | |
NM_024504.4:c.1183+1965G>A MANE Select | NP_078780.1:n.1183+1965G>A |