HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924491T>G , CM000675.2:g.27924491T>G | GRCh38 |
NC_000013.10:g.28498628T>G , CM000675.1:g.28498628T>G | GRCh37 |
NC_000013.9:g.27396628T>G | NCBI36 |
NG_008183.1:g.9461T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.642T>G MANE Select | ENSP00000370421.4:p.Ala214= | |
ENST00000381033.4:c.642T>G | ENSP00000370421.4:p.Ala214= | |
NM_000209.3:c.642T>G | NP_000200.1:p.Ala214= | |
NM_000209.4:c.642T>G MANE Select | NP_000200.1:p.Ala214= |