HGVS | Genome Assembly |
---|---|
NC_000010.11:g.68231634A>G , CM000672.2:g.68231634A>G | GRCh38 |
NC_000010.10:g.69991391A>G , CM000672.1:g.69991391A>G | GRCh37 |
NC_000010.9:g.69661397A>G | NCBI36 |
NG_031934.1:g.5480T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373673.5:c.44T>C MANE Select | ENSP00000362777.3:p.Val15Ala | |
ENST00000373673.4:c.44T>C | ENSP00000362777.3:p.Val15Ala | |
NM_145178.3:c.44T>C | NP_660161.1:p.Val15Ala | |
NM_145178.4:c.44T>C MANE Select | NP_660161.1:p.Val15Ala |