HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46010968A>G , CM000682.2:g.46010968A>G | GRCh38 |
NC_000020.10:g.44639607A>G , CM000682.1:g.44639607A>G | GRCh37 |
NC_000020.9:g.44073014A>G | NCBI36 |
NG_011468.1:g.7061A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.567A>G MANE Select | ENSP00000361405.3:p.Ala189= | |
NM_004994.2:c.567A>G | NP_004985.2:p.Ala189= | |
NM_004994.3:c.567A>G MANE Select | NP_004985.2:p.Ala189= |