Linked Data
ClinVar Variation Id:
1943375
ClinVar RCV Id:
RCV002650415
dbSNP Id:
rs758345304
ExAC:
8:41790743 T / C
gnomAD v2:
8-41790743-T-C
gnomAD v3:
8-41933225-T-C
gnomAD v4:
8-41933225-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933225T>C , CM000670.2:g.41933225T>C | GRCh38 |
| NC_000008.10:g.41790743T>C , CM000670.1:g.41790743T>C | GRCh37 |
| NC_000008.9:g.41909900T>C | NCBI36 |
| NG_042093.1:g.123802A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.4995A>G MANE Select | ENSP00000265713.2:p.Gln1665= | |
| ENST00000396930.4:c.4995A>G | ENSP00000380136.3:p.Gln1665= | |
| ENST00000406337.6:c.5001A>G | ENSP00000385888.2:p.Gln1667= | |
| ENST00000648335.1:c.4995A>G | ENSP00000497086.1:p.Gln1665= | |
| ENST00000649817.1:c.3676A>G | ||
| ENST00000265713.6:c.4995A>G | ENSP00000265713.2:p.Gln1665= | |
| ENST00000396930.3:c.4995A>G | ENSP00000380136.3:p.Gln1665= | |
| ENST00000406337.5:c.4995A>G | ENSP00000385888.1:p.Gln1665= | |
| NM_001099412.1:c.4995A>G | NP_001092882.1:p.Gln1665= | |
| NM_001099413.1:c.4995A>G | NP_001092883.1:p.Gln1665= | |
| NM_006766.3:c.4995A>G | NP_006757.2:p.Gln1665= | |
| NM_006766.4:c.4995A>G | NP_006757.2:p.Gln1665= | |
| XM_011544656.1:c.5127A>G | XP_011542958.1:p.Gln1709= | |
| XM_011544657.1:c.5127A>G | XP_011542959.1:p.Gln1709= | |
| XM_011544658.1:c.5127A>G | XP_011542960.1:p.Gln1709= | |
| XM_011544659.1:c.5106A>G | XP_011542961.1:p.Gln1702= | |
| XM_011544660.1:c.5013A>G | XP_011542962.1:p.Gln1671= | |
| XM_011544656.2:c.5127A>G | XP_011542958.1:p.Gln1709= | |
| XM_011544657.3:c.5127A>G | XP_011542959.1:p.Gln1709= | |
| XM_011544658.3:c.5127A>G | XP_011542960.1:p.Gln1709= | |
| XM_011544659.2:c.5106A>G | XP_011542961.1:p.Gln1702= | |
| XM_017013863.1:c.4995A>G | XP_016869352.1:p.Gln1665= | |
| XM_017013864.2:c.4995A>G | XP_016869353.1:p.Gln1665= | |
| XM_024447285.1:c.3567A>G | XP_024303053.1:p.Gln1189= | |
| NM_006766.5:c.4995A>G MANE Select | NP_006757.2:p.Gln1665= |