HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4860197C>G , CM000666.2:g.4860197C>G | GRCh38 |
NC_000004.11:g.4861924C>G , CM000666.1:g.4861924C>G | GRCh37 |
NC_000004.10:g.4912825C>G | NCBI36 |
NG_008121.1:g.5533C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.298C>G MANE Select | ENSP00000372170.4:p.Pro100Ala | |
ENST00000382723.4:c.298C>G | ENSP00000372170.4:p.Pro100Ala | |
NM_002448.3:c.298C>G MANE Select | NP_002439.2:p.Pro100Ala |