HGVS | Genome Assembly |
---|---|
NC_000012.12:g.950115A>T , CM000674.2:g.950115A>T | GRCh38 |
NC_000012.11:g.1059281A>T , CM000674.1:g.1059281A>T | GRCh37 |
NC_000012.10:g.929542A>T | NCBI36 |
NG_017078.1:g.4583T>A | |
NG_017078.2:g.44927T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000430095.6:c.-18-17039T>A | ENSP00000387901.2:n.-18-17039T>A | |
NM_001297419.1:c.-18-17039T>A | NP_001284348.1:n.-18-17039T>A | |
XM_005253720.3:c.-18-17039T>A | XP_005253777.1:n.-18-17039T>A | |
XM_005253720.5:c.-18-17039T>A | XP_005253777.1:n.-18-17039T>A | |
XM_017019769.1:c.-18-17039T>A | XP_016875258.1:n.-18-17039T>A |