HGVS | Genome Assembly |
---|---|
NC_000012.12:g.49950923C>A , CM000674.2:g.49950923C>A | GRCh38 |
NC_000012.11:g.50344706C>A , CM000674.1:g.50344706C>A | GRCh37 |
NC_000012.10:g.48630973C>A | NCBI36 |
NG_008913.1:g.5183C>A , LRG_717:g.5183C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000199280.4:c.93C>A MANE Select | ENSP00000199280.3:p.Ala31= | |
ENST00000199280.3:c.93C>A | ENSP00000199280.3:p.Ala31= | |
ENST00000550862.1:c.93C>A | ENSP00000450022.1:p.Ala31= | |
ENST00000551526.5:c.93C>A | ENSP00000447148.1:p.Ala31= | |
NM_000486.5:c.93C>A , LRG_717t1:c.93C>A | NP_000477.1:p.Ala31= | |
NM_000486.6:c.93C>A MANE Select | NP_000477.1:p.Ala31= |