Linked Data
ClinVar Variation Id:
1368502
ClinVar RCV Id:
RCV001874427
dbSNP Id:
rs774129666
ExAC:
19:41128498 A / G
gnomAD v2:
19-41128498-A-G
gnomAD v3:
19-40622593-A-G
gnomAD v4:
19-40622593-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40622593A>G , CM000681.2:g.40622593A>G | GRCh38 |
| NC_000019.9:g.41128498A>G , CM000681.1:g.41128498A>G | GRCh37 |
| NC_000019.8:g.45820338A>G | NCBI36 |
| NG_021201.1:g.34428A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.3410A>G MANE Select | ENSP00000380031.5:p.Gln1137Arg | |
| ENST00000204005.13:c.3500A>G | ENSP00000204005.10:p.Gln1167Arg | |
| ENST00000243562.13:c.1609A>G | ||
| ENST00000308370.11:c.3611A>G | ENSP00000311905.8:p.Gln1204Arg | |
| ENST00000318809.11:n.484-1011A>G | ||
| ENST00000396819.7:c.3410A>G | ENSP00000380031.4:p.Gln1137Arg | |
| ENST00000593463.5:c.535-1011A>G | ||
| ENST00000594116.1:n.206A>G | ||
| ENST00000595118.5:n.915A>G | ||
| ENST00000595665.1:n.535-1011A>G | ||
| ENST00000597816.5:n.453-1011A>G | ||
| ENST00000599724.5:c.485-1011A>G | ENSP00000469785.1:n.485-1011A>G | |
| ENST00000601032.5:c.1047A>G | ||
| ENST00000622107.4:n.545-1011A>G | ||
| ENST00000622457.1:c.385-1011A>G | ||
| ENST00000622565.4:n.727-1011A>G | ||
| NM_001042544.1:c.3611A>G | NP_001036009.1:p.Gln1204Arg | |
| NM_001042545.1:c.3410A>G | NP_001036010.1:p.Gln1137Arg | |
| NM_003573.2:c.3500A>G | NP_003564.2:p.Gln1167Arg | |
| XM_011527376.1:c.3725A>G | XP_011525678.1:p.Gln1242Arg | |
| XM_011527377.1:c.3644A>G | XP_011525679.1:p.Gln1215Arg | |
| XM_011527378.1:c.3644A>G | XP_011525680.1:p.Gln1215Arg | |
| XM_011527379.1:c.3524A>G | XP_011525681.1:p.Gln1175Arg | |
| XM_011527380.1:c.3518A>G | XP_011525682.1:p.Gln1173Arg | |
| XM_011527381.1:c.3518A>G | XP_011525683.1:p.Gln1173Arg | |
| XM_011527382.1:c.3401A>G | XP_011525684.1:p.Gln1134Arg | |
| XM_011527383.1:c.3452-1011A>G | XP_011525685.1:n.3452-1011A>G | |
| XM_011527384.1:c.3326-1011A>G | XP_011525686.1:n.3326-1011A>G | |
| XM_011527385.1:c.3320-1011A>G | XP_011525687.1:n.3320-1011A>G | |
| XM_011527386.1:c.3194-1011A>G | XP_011525688.1:n.3194-1011A>G | |
| XM_011527387.1:c.3002A>G | XP_011525689.1:p.Gln1001Arg | |
| XM_011527376.2:c.3725A>G | XP_011525678.1:p.Gln1242Arg | |
| XM_011527377.2:c.3644A>G | XP_011525679.1:p.Gln1215Arg | |
| XM_011527378.2:c.3644A>G | XP_011525680.1:p.Gln1215Arg | |
| XM_011527380.2:c.3518A>G | XP_011525682.1:p.Gln1173Arg | |
| XM_011527381.2:c.3518A>G | XP_011525683.1:p.Gln1173Arg | |
| XM_011527382.2:c.3401A>G | XP_011525684.1:p.Gln1134Arg | |
| XM_011527383.2:c.3452-1011A>G | XP_011525685.1:n.3452-1011A>G | |
| XM_011527384.2:c.3326-1011A>G | XP_011525686.1:n.3326-1011A>G | |
| XM_011527385.2:c.3320-1011A>G | XP_011525687.1:n.3320-1011A>G | |
| XM_011527386.2:c.3194-1011A>G | XP_011525688.1:n.3194-1011A>G | |
| XM_017027352.1:c.3512A>G | XP_016882841.1:p.Gln1171Arg | |
| XM_017027353.1:c.3386A>G | XP_016882842.1:p.Gln1129Arg | |
| XM_017027354.1:c.3200-1011A>G | XP_016882843.1:n.3200-1011A>G | |
| NM_001042545.2:c.3410A>G MANE Select | NP_001036010.1:p.Gln1137Arg |