HGVS | Genome Assembly |
---|---|
NC_000001.11:g.162349738G>A , CM000663.2:g.162349738G>A | GRCh38 |
NC_000001.10:g.162319528G>A , CM000663.1:g.162319528G>A | GRCh37 |
NC_000001.9:g.160586152G>A | NCBI36 |
NG_015979.1:g.284948G>A | |
NG_015979.2:g.284948G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361897.10:c.596-5449G>A MANE Select | ENSP00000355133.5:n.596-5449G>A | |
ENST00000361897.9:c.596-5449G>A | ENSP00000355133.5:n.596-5449G>A | |
ENST00000430120.3:c.581-5449G>A | ENSP00000396713.3:n.581-5449G>A | |
ENST00000530878.5:c.581-5449G>A | ENSP00000431586.1:n.581-5449G>A | |
NM_001164757.1:c.581-5449G>A | NP_001158229.1:n.581-5449G>A | |
NM_014697.2:c.596-5449G>A | NP_055512.1:n.596-5449G>A | |
NM_014697.3:c.596-5449G>A MANE Select | NP_055512.1:n.596-5449G>A | |
NM_001164757.2:c.581-5449G>A | NP_001158229.1:n.581-5449G>A |