HGVS | Genome Assembly |
---|---|
NC_000005.10:g.71719337C>T , CM000667.2:g.71719337C>T | GRCh38 |
NC_000005.9:g.71015164C>T , CM000667.1:g.71015164C>T | GRCh37 |
NC_000005.8:g.71050920C>T | NCBI36 |
NG_015988.1:g.5175C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296777.5:c.44C>T MANE Select | ENSP00000296777.4:p.Ala15Val | |
ENST00000296777.4:c.44C>T | ENSP00000296777.4:p.Ala15Val | |
NM_004291.3:c.44C>T | NP_004282.1:p.Ala15Val | |
NM_004291.4:c.44C>T MANE Select | NP_004282.1:p.Ala15Val |