HGVS | Genome Assembly |
---|---|
NC_000001.11:g.162349743G>C , CM000663.2:g.162349743G>C | GRCh38 |
NC_000001.10:g.162319533G>C , CM000663.1:g.162319533G>C | GRCh37 |
NC_000001.9:g.160586157G>C | NCBI36 |
NG_015979.1:g.284953G>C | |
NG_015979.2:g.284953G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361897.10:c.596-5444G>C MANE Select | ENSP00000355133.5:n.596-5444G>C | |
ENST00000361897.9:c.596-5444G>C | ENSP00000355133.5:n.596-5444G>C | |
ENST00000430120.3:c.581-5444G>C | ENSP00000396713.3:n.581-5444G>C | |
ENST00000530878.5:c.581-5444G>C | ENSP00000431586.1:n.581-5444G>C | |
NM_001164757.1:c.581-5444G>C | NP_001158229.1:n.581-5444G>C | |
NM_014697.2:c.596-5444G>C | NP_055512.1:n.596-5444G>C | |
NM_014697.3:c.596-5444G>C MANE Select | NP_055512.1:n.596-5444G>C | |
NM_001164757.2:c.581-5444G>C | NP_001158229.1:n.581-5444G>C |