HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518091A>C , CM000676.2:g.77518091A>C | GRCh38 |
NC_000014.8:g.77984434A>C , CM000676.1:g.77984434A>C | GRCh37 |
NC_000014.7:g.77054187A>C | NCBI36 |
NG_028282.1:g.103677T>G , LRG_371:g.103677T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.548T>G | ||
ENST00000687688.1:n.1279T>G | ||
ENST00000692906.1:n.1248T>G | ||
ENST00000216484.7:c.1516T>G MANE Select | ENSP00000216484.2:p.Ser506Ala | |
ENST00000216484.6:c.1516T>G | ENSP00000216484.2:p.Ser506Ala | |
ENST00000556607.1:c.344T>G | ENSP00000451029.1:n.344T>G | |
NM_004863.3:c.1516T>G , LRG_371t1:c.1516T>G | NP_004854.1:p.Ser506Ala | |
NM_004863.4:c.1516T>G MANE Select | NP_004854.1:p.Ser506Ala |