HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73367896G>C , CM000677.2:g.73367896G>C | GRCh38 |
NC_000015.9:g.73660237G>C , CM000677.1:g.73660237G>C | GRCh37 |
NC_000015.8:g.71447290G>C | NCBI36 |
NG_009063.1:g.6369C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.375C>G MANE Select | ENSP00000261917.3:p.Ser125= | |
ENST00000261917.3:c.375C>G | ENSP00000261917.3:p.Ser125= | |
NM_005477.2:c.375C>G | NP_005468.1:p.Ser125= | |
NM_005477.3:c.375C>G MANE Select | NP_005468.1:p.Ser125= |