HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6595021C>G , CM000671.2:g.6595021C>G | GRCh38 |
NC_000009.11:g.6595021C>G , CM000671.1:g.6595021C>G | GRCh37 |
NC_000009.10:g.6585021C>G | NCBI36 |
NG_016397.1:g.55672G>C , LRG_643:g.55672G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321612.8:c.1254G>C MANE Select | ENSP00000370737.4:p.Leu418Phe | |
ENST00000639364.1:n.954G>C | ||
ENST00000639443.1:n.822G>C | ||
ENST00000639493.1:n.406G>C | ||
ENST00000639954.1:n.962G>C | ||
ENST00000640592.1:n.1137G>C | ||
ENST00000321612.6:c.1254G>C | ENSP00000370737.3:p.Leu418Phe | |
ENST00000463305.1:n.338G>C | ||
NM_000170.2:c.1254G>C , LRG_643t1:c.1254G>C | NP_000161.2:p.Leu418Phe | |
NM_000170.3:c.1254G>C MANE Select | NP_000161.2:p.Leu418Phe |