HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518147A>C , CM000676.2:g.77518147A>C | GRCh38 |
NC_000014.8:g.77984490A>C , CM000676.1:g.77984490A>C | GRCh37 |
NC_000014.7:g.77054243A>C | NCBI36 |
NG_028282.1:g.103621T>G , LRG_371:g.103621T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.492T>G | ||
ENST00000687688.1:n.1223T>G | ||
ENST00000692906.1:n.1192T>G | ||
ENST00000216484.7:c.1460T>G MANE Select | ENSP00000216484.2:p.Leu487Arg | |
ENST00000216484.6:c.1460T>G | ENSP00000216484.2:p.Leu487Arg | |
ENST00000556607.1:c.288T>G | ENSP00000451029.1:n.288T>G | |
NM_004863.3:c.1460T>G , LRG_371t1:c.1460T>G | NP_004854.1:p.Leu487Arg | |
NM_004863.4:c.1460T>G MANE Select | NP_004854.1:p.Leu487Arg |