HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011290A>C , CM000682.2:g.46011290A>C | GRCh38 |
NC_000020.10:g.44639929A>C , CM000682.1:g.44639929A>C | GRCh37 |
NC_000020.9:g.44073336A>C | NCBI36 |
NG_011468.1:g.7383A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.797A>C MANE Select | ENSP00000361405.3:p.Asp266Ala | |
NM_004994.2:c.797A>C | NP_004985.2:p.Asp266Ala | |
NM_004994.3:c.797A>C MANE Select | NP_004985.2:p.Asp266Ala |