HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115490G>T , CM000681.2:g.10115490G>T | GRCh38 |
NC_000019.9:g.10226166G>T , CM000681.1:g.10226166G>T | GRCh37 |
NC_000019.8:g.10087166G>T | NCBI36 |
NG_047007.1:g.8970G>T | |
NG_051197.1:g.9435C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.936C>A MANE Select | ENSP00000253108.3:p.Val312= | |
ENST00000253108.8:c.936C>A | ENSP00000253108.3:p.Val312= | |
ENST00000590158.1:n.955C>A | ||
ENST00000593054.5:c.330C>A | ENSP00000467187.1:p.Val110= | |
NM_003755.3:c.936C>A | NP_003746.2:p.Val312= | |
NM_003755.4:c.936C>A | NP_003746.2:p.Val312= | |
NM_003755.5:c.936C>A MANE Select | NP_003746.2:p.Val312= |