HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518079A>G , CM000676.2:g.77518079A>G | GRCh38 |
NC_000014.8:g.77984422A>G , CM000676.1:g.77984422A>G | GRCh37 |
NC_000014.7:g.77054175A>G | NCBI36 |
NG_028282.1:g.103689T>C , LRG_371:g.103689T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.560T>C | ||
ENST00000687688.1:n.1291T>C | ||
ENST00000692906.1:n.1260T>C | ||
ENST00000216484.7:c.1528T>C MANE Select | ENSP00000216484.2:p.Phe510Leu | |
ENST00000216484.6:c.1528T>C | ENSP00000216484.2:p.Phe510Leu | |
ENST00000556607.1:c.356T>C | ENSP00000451029.1:n.356T>C | |
NM_004863.3:c.1528T>C , LRG_371t1:c.1528T>C | NP_004854.1:p.Phe510Leu | |
NM_004863.4:c.1528T>C MANE Select | NP_004854.1:p.Phe510Leu |