HGVS | Genome Assembly |
---|---|
NC_000014.9:g.96262333G>A , CM000676.2:g.96262333G>A | GRCh38 |
NC_000014.8:g.96728670G>A , CM000676.1:g.96728670G>A | GRCh37 |
NC_000014.7:g.95798423G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216629.11:c.-129-319G>A MANE Select | ENSP00000216629.6:n.-129-319G>A | |
ENST00000216629.10:c.-129-319G>A | ENSP00000216629.6:n.-129-319G>A | |
ENST00000553356.1:c.-129-319G>A | ENSP00000452064.1:n.-129-319G>A | |
ENST00000553811.1:c.75-319G>A | ENSP00000450984.1:n.75-319G>A | |
ENST00000555847.1:n.256-319G>A | ||
NM_000710.3:c.-129-319G>A | NP_000701.2:n.-129-319G>A | |
NM_000710.4:c.-129-319G>A MANE Select | NP_000701.2:n.-129-319G>A | |
NM_001386007.1:c.-10-1340G>A | NP_001372936.1:n.-10-1340G>A |