HGVS | Genome Assembly |
---|---|
NC_000012.12:g.49950970C>T , CM000674.2:g.49950970C>T | GRCh38 |
NC_000012.11:g.50344753C>T , CM000674.1:g.50344753C>T | GRCh37 |
NC_000012.10:g.48631020C>T | NCBI36 |
NG_008913.1:g.5230C>T , LRG_717:g.5230C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000199280.4:c.140C>T MANE Select | ENSP00000199280.3:p.Ala47Val | |
ENST00000199280.3:c.140C>T | ENSP00000199280.3:p.Ala47Val | |
ENST00000550862.1:c.140C>T | ENSP00000450022.1:p.Ala47Val | |
ENST00000551526.5:c.140C>T | ENSP00000447148.1:p.Ala47Val | |
NM_000486.5:c.140C>T , LRG_717t1:c.140C>T | NP_000477.1:p.Ala47Val | |
NM_000486.6:c.140C>T MANE Select | NP_000477.1:p.Ala47Val |