Linked Data
ClinVar Variation Id:
785249
ClinVar RCV Id:
RCV000967085
dbSNP Id:
rs73681526
ExAC:
8:53547520 T / C
gnomAD v2:
8-53547520-T-C
gnomAD v3:
8-52634960-T-C
gnomAD v4:
8-52634960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.52634960T>C , CM000670.2:g.52634960T>C | GRCh38 |
| NC_000008.10:g.53547520T>C , CM000670.1:g.53547520T>C | GRCh37 |
| NC_000008.9:g.53710073T>C | NCBI36 |
| NG_015833.1:g.84507A>G | |
| NG_015833.2:g.84507A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000025008.10:c.4401A>G MANE Select | ENSP00000025008.5:p.Gln1467= | |
| ENST00000025008.9:c.4401A>G | ENSP00000025008.5:p.Gln1467= | |
| ENST00000435644.6:c.4401A>G | ENSP00000396067.2:p.Gln1467= | |
| ENST00000519912.1:c.29A>G | ||
| ENST00000521611.1:n.386-11489A>G | ||
| ENST00000522957.1:n.845A>G | ||
| NM_001083617.1:c.4401A>G | NP_001077086.1:p.Gln1467= | |
| NM_014781.4:c.4401A>G | NP_055596.3:p.Gln1467= | |
| XM_011517643.1:c.4401A>G | XP_011515945.1:p.Gln1467= | |
| XM_011517644.1:c.4401A>G | XP_011515946.1:p.Gln1467= | |
| XM_011517645.1:c.4401A>G | XP_011515947.1:p.Gln1467= | |
| XM_011517646.1:c.4245A>G | XP_011515948.1:p.Gln1415= | |
| XM_011517650.1:c.2772A>G | XP_011515952.1:p.Gln924= | |
| XM_011517643.2:c.4401A>G | XP_011515945.1:p.Gln1467= | |
| XM_011517644.3:c.4401A>G | XP_011515946.1:p.Gln1467= | |
| XM_011517645.2:c.4401A>G | XP_011515947.1:p.Gln1467= | |
| XM_011517646.3:c.4245A>G | XP_011515948.1:p.Gln1415= | |
| XM_017014103.2:c.4422A>G | XP_016869592.1:p.Gln1474= | |
| XM_017014104.1:c.4422A>G | XP_016869593.1:p.Gln1474= | |
| XM_017014105.2:c.4422A>G | XP_016869594.1:p.Gln1474= | |
| XM_017014106.2:c.4422A>G | XP_016869595.1:p.Gln1474= | |
| XM_017014107.2:c.4401A>G | XP_016869596.1:p.Gln1467= | |
| XM_017014108.2:c.4422A>G | XP_016869597.1:p.Gln1474= | |
| XM_017014109.1:c.4266A>G | XP_016869598.1:p.Gln1422= | |
| XM_017014110.2:c.2793A>G | XP_016869599.1:p.Gln931= | |
| XM_017014111.2:c.2772A>G | XP_016869600.1:p.Gln924= | |
| XM_017014112.2:c.2772A>G | XP_016869601.1:p.Gln924= | |
| NM_014781.5:c.4401A>G MANE Select | NP_055596.3:p.Gln1467= | |
| NM_001083617.2:c.4401A>G | NP_001077086.1:p.Gln1467= |