Linked Data
ClinVar Variation Id:
718947
dbSNP Id:
rs8062558
ExAC:
16:1412898 A / G
gnomAD v2:
16-1412898-A-G
gnomAD v3:
16-1362897-A-G
gnomAD v4:
16-1362897-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362897A>G , CM000678.2:g.1362897A>G | GRCh38 |
| NC_000016.9:g.1412898A>G , CM000678.1:g.1412898A>G | GRCh37 |
| NC_000016.8:g.1352899A>G | NCBI36 |
| NG_016985.1:g.15999A>G | |
| NG_033129.1:g.56808T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.913A>G | ||
| ENST00000529110.2:c.898A>G | ENSP00000435349.2:p.Arg300Gly | |
| ENST00000529957.6:n.872A>G | ||
| ENST00000683366.1:c.*546A>G | ENSP00000507283.1:n.*546A>G | |
| ENST00000683887.1:c.862A>G | ENSP00000506886.1:p.Arg288Gly | |
| ENST00000684100.1:n.808A>G | ||
| ENST00000684126.1:n.948A>G | ||
| ENST00000684688.1:n.1439A>G | ||
| ENST00000204679.9:c.814A>G MANE Select | ENSP00000204679.4:p.Arg272Gly | |
| ENST00000204679.8:c.814A>G | ENSP00000204679.4:p.Arg272Gly | |
| ENST00000527076.1:n.2037A>G | ||
| ENST00000527168.5:n.981A>G | ||
| ENST00000529957.5:n.913A>G | ||
| NM_032520.4:c.814A>G | NP_115909.1:p.Arg272Gly | |
| XM_017023782.1:c.862A>G | XP_016879271.1:p.Arg288Gly | |
| XM_017023783.1:c.454A>G | XP_016879272.1:p.Arg152Gly | |
| NM_032520.5:c.814A>G MANE Select | NP_115909.1:p.Arg272Gly |