HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518134G>T , CM000676.2:g.77518134G>T | GRCh38 |
NC_000014.8:g.77984477G>T , CM000676.1:g.77984477G>T | GRCh37 |
NC_000014.7:g.77054230G>T | NCBI36 |
NG_028282.1:g.103634C>A , LRG_371:g.103634C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.505C>A | ||
ENST00000687688.1:n.1236C>A | ||
ENST00000692906.1:n.1205C>A | ||
ENST00000216484.7:c.1473C>A MANE Select | ENSP00000216484.2:p.Ile491= | |
ENST00000216484.6:c.1473C>A | ENSP00000216484.2:p.Ile491= | |
ENST00000556607.1:c.301C>A | ENSP00000451029.1:n.301C>A | |
NM_004863.3:c.1473C>A , LRG_371t1:c.1473C>A | NP_004854.1:p.Ile491= | |
NM_004863.4:c.1473C>A MANE Select | NP_004854.1:p.Ile491= |