HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133644250C>G , CM000671.2:g.133644250C>G | GRCh38 |
NC_000009.11:g.136509372C>G , CM000671.1:g.136509372C>G | GRCh37 |
NC_000009.10:g.135499193C>G | NCBI36 |
NG_008645.1:g.12888C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393056.8:c.954C>G MANE Select | ENSP00000376776.2:p.Ala318= | |
ENST00000393056.6:c.954C>G | ENSP00000376776.2:p.Ala318= | |
NM_000787.3:c.954C>G | NP_000778.3:p.Ala318= | |
NM_000787.4:c.954C>G MANE Select | NP_000778.3:p.Ala318= |