HGVS | Genome Assembly |
---|---|
NC_000017.11:g.5022402T>G , CM000679.2:g.5022402T>G | GRCh38 |
NC_000017.10:g.4925697T>G , CM000679.1:g.4925697T>G | GRCh37 |
NC_000017.9:g.4866421T>G | NCBI36 |
NG_034137.1:g.29455T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320785.10:c.2321T>G MANE Select | ENSP00000320821.5:p.Leu774Arg | |
ENST00000320785.9:c.2321T>G | ENSP00000320821.5:p.Leu774Arg | |
NM_006612.5:c.2321T>G | NP_006603.2:p.Leu774Arg | |
XM_005256424.1:c.2321T>G | XP_005256481.1:p.Leu774Arg | |
XM_005256424.2:c.2321T>G | XP_005256481.1:p.Leu774Arg | |
NM_006612.6:c.2321T>G MANE Select | NP_006603.2:p.Leu774Arg |