Linked Data
ClinVar Variation Id:
542731
ClinVar RCV Id:
RCV000653213
dbSNP Id:
rs363050
gnomAD v2:
20-10234257-G-A
gnomAD v3:
20-10253609-G-A
gnomAD v4:
20-10253609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10253609G>A , CM000682.2:g.10253609G>A | GRCh38 |
| NC_000020.10:g.10234257G>A , CM000682.1:g.10234257G>A | GRCh37 |
| NC_000020.9:g.10182257G>A | NCBI36 |
| NG_029626.1:g.39781G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706269.1:c.-63-21820G>A | ENSP00000516314.1:n.-63-21820G>A | |
| ENST00000685131.1:c.-64+15583G>A | ENSP00000508837.1:n.-64+15583G>A | |
| ENST00000687785.1:c.-64+8716G>A | ENSP00000510219.1:n.-64+8716G>A | |
| ENST00000689077.1:n.393-21820G>A | ||
| ENST00000689757.1:c.-108-5748G>A | ENSP00000509312.1:n.-108-5748G>A | |
| ENST00000689858.1:c.-64+9575G>A | ENSP00000510663.1:n.-64+9575G>A | |
| ENST00000690099.1:n.393-21820G>A | ||
| ENST00000690766.1:n.393-21820G>A | ||
| ENST00000690812.1:c.-108-5748G>A | ENSP00000509287.1:n.-108-5748G>A | |
| ENST00000691161.1:c.-63-21820G>A | ENSP00000510109.1:n.-63-21820G>A | |
| ENST00000691353.1:c.-262-11870G>A | ENSP00000509759.1:n.-262-11870G>A | |
| ENST00000691665.1:c.-64+19272G>A | ENSP00000508541.1:n.-64+19272G>A | |
| ENST00000692411.1:c.-148-7622G>A | ENSP00000508939.1:n.-148-7622G>A | |
| ENST00000693325.1:c.-63-21820G>A | ENSP00000510558.1:n.-63-21820G>A | |
| ENST00000693732.1:n.393-21820G>A | ||
| ENST00000254976.7:c.-63-21820G>A MANE Select | ENSP00000254976.3:n.-63-21820G>A | |
| ENST00000254976.6:c.-63-21820G>A | ENSP00000254976.2:n.-63-21820G>A | |
| ENST00000304886.6:c.-63-21820G>A | ENSP00000307341.2:n.-63-21820G>A | |
| ENST00000430336.1:c.-63-21820G>A | ENSP00000400720.1:n.-63-21820G>A | |
| NM_003081.3:c.-63-21820G>A | NP_003072.2:n.-63-21820G>A | |
| NM_130811.2:c.-63-21820G>A | NP_570824.1:n.-63-21820G>A | |
| XM_005260808.3:c.-63-21820G>A | XP_005260865.1:n.-63-21820G>A | |
| XM_005260810.3:c.-63-21820G>A | XP_005260867.1:n.-63-21820G>A | |
| NM_001322902.1:c.-63-21820G>A | NP_001309831.1:n.-63-21820G>A | |
| NM_001322903.1:c.-64+19272G>A | NP_001309832.1:n.-64+19272G>A | |
| NM_001322904.1:c.-63-21820G>A | NP_001309833.1:n.-63-21820G>A | |
| NM_001322905.1:c.-64+9575G>A | NP_001309834.1:n.-64+9575G>A | |
| NM_001322906.1:c.-64+15583G>A | NP_001309835.1:n.-64+15583G>A | |
| NM_001322907.1:c.-63-21820G>A | NP_001309836.1:n.-63-21820G>A | |
| NM_001322908.1:c.-64+8716G>A | NP_001309837.1:n.-64+8716G>A | |
| NM_001322909.1:c.-108-5748G>A | NP_001309838.1:n.-108-5748G>A | |
| NM_001322910.1:c.-63-21820G>A | NP_001309839.1:n.-63-21820G>A | |
| NM_003081.4:c.-63-21820G>A | NP_003072.2:n.-63-21820G>A | |
| NM_130811.3:c.-63-21820G>A | NP_570824.1:n.-63-21820G>A | |
| XM_005260808.5:c.-63-21820G>A | XP_005260865.1:n.-63-21820G>A | |
| XM_017028021.2:c.-64+9575G>A | XP_016883510.1:n.-64+9575G>A | |
| XM_017028022.1:c.-64+15583G>A | XP_016883511.1:n.-64+15583G>A | |
| NM_001322902.2:c.-63-21820G>A | NP_001309831.1:n.-63-21820G>A | |
| NM_001322903.2:c.-64+19272G>A | NP_001309832.1:n.-64+19272G>A | |
| NM_001322904.2:c.-63-21820G>A | NP_001309833.1:n.-63-21820G>A | |
| NM_001322905.2:c.-64+9575G>A | NP_001309834.1:n.-64+9575G>A | |
| NM_001322906.2:c.-64+15583G>A | NP_001309835.1:n.-64+15583G>A | |
| NM_001322907.2:c.-63-21820G>A | NP_001309836.1:n.-63-21820G>A | |
| NM_001322908.2:c.-64+8716G>A | NP_001309837.1:n.-64+8716G>A | |
| NM_001322909.2:c.-108-5748G>A | NP_001309838.1:n.-108-5748G>A | |
| NM_001322910.2:c.-63-21820G>A | NP_001309839.1:n.-63-21820G>A | |
| NM_003081.5:c.-63-21820G>A | NP_003072.2:n.-63-21820G>A | |
| NM_130811.4:c.-63-21820G>A MANE Select | NP_570824.1:n.-63-21820G>A |