Linked Data
dbSNP Id:
rs1224195000
gnomAD v2:
1-16382016-C-G
gnomAD v3:
1-16055521-C-G
gnomAD v4:
1-16055521-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16055521C>G , CM000663.2:g.16055521C>G | GRCh38 |
| NC_000001.10:g.16382016C>G , CM000663.1:g.16382016C>G | GRCh37 |
| NC_000001.9:g.16254603C>G | NCBI36 |
| NG_013079.1:g.16770C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1843C>G | ENSP00000507062.1:p.Gln615Glu | |
| ENST00000682793.1:c.1843C>G | ENSP00000506910.1:p.Gln615Glu | |
| ENST00000682838.1:c.*1585C>G | ENSP00000507652.1:n.*1585C>G | |
| ENST00000683578.1:c.1843C>G | ENSP00000507430.1:p.Gln615Glu | |
| ENST00000683606.1:n.1449C>G | ||
| ENST00000683661.1:n.3378C>G | ||
| ENST00000684324.1:c.1843C>G | ENSP00000507937.1:p.Gln615Glu | |
| ENST00000684545.1:c.1843C>G | ENSP00000506733.1:p.Gln615Glu | |
| ENST00000684624.1:n.1220C>G | ||
| ENST00000684714.1:c.*63C>G | ENSP00000506861.1:n.*63C>G | |
| ENST00000684731.1:n.1170C>G | ||
| ENST00000375679.9:c.1843C>G MANE Select | ENSP00000364831.5:p.Gln615Glu | |
| ENST00000375667.7:c.1336C>G | ENSP00000364819.3:p.Gln446Glu | |
| ENST00000375679.8:c.1843C>G | ENSP00000364831.4:p.Gln615Glu | |
| ENST00000431772.1:c.310C>G | ENSP00000389344.1:p.Gln104Glu | |
| ENST00000619181.4:c.1294-1666C>G | ENSP00000483866.1:n.1294-1666C>G | |
| NM_000085.4:c.1843C>G | NP_000076.2:p.Gln615Glu | |
| NM_001165945.2:c.1336C>G | NP_001159417.2:p.Gln446Glu | |
| XM_011540619.1:c.1684C>G | XP_011538921.1:p.Gln562Glu | |
| XM_011540621.1:c.1192C>G | XP_011538923.1:p.Gln398Glu | |
| NM_000085.5:c.1843C>G MANE Select | NP_000076.2:p.Gln615Glu |