HGVS | Genome Assembly |
---|---|
NC_000010.11:g.68231645C>G , CM000672.2:g.68231645C>G | GRCh38 |
NC_000010.10:g.69991402C>G , CM000672.1:g.69991402C>G | GRCh37 |
NC_000010.9:g.69661408C>G | NCBI36 |
NG_031934.1:g.5469G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373673.5:c.33G>C MANE Select | ENSP00000362777.3:p.Ala11= | |
ENST00000373673.4:c.33G>C | ENSP00000362777.3:p.Ala11= | |
NM_145178.3:c.33G>C | NP_660161.1:p.Ala11= | |
NM_145178.4:c.33G>C MANE Select | NP_660161.1:p.Ala11= |