Linked Data
ClinVar Variation Id:
13128
dbSNP Id:
rs1801320
gnomAD v2:
15-40987528-G-C
gnomAD v3:
15-40695330-G-C
gnomAD v4:
15-40695330-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40695330G>C , CM000677.2:g.40695330G>C | GRCh38 |
| NC_000015.9:g.40987528G>C , CM000677.1:g.40987528G>C | GRCh37 |
| NC_000015.8:g.38774820G>C | NCBI36 |
| NG_012120.1:g.5170G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267868.8:c.-98G>C MANE Select | ENSP00000267868.3:n.-98G>C | |
| ENST00000645673.2:c.-98G>C | ENSP00000493712.2:n.-98G>C | |
| ENST00000267868.7:c.-98G>C | ENSP00000267868.3:n.-98G>C | |
| ENST00000382643.7:c.-3+9G>C | ENSP00000372088.3:n.-3+9G>C | |
| ENST00000423169.6:c.-98G>C | ENSP00000406602.2:n.-98G>C | |
| ENST00000525066.5:c.-98G>C | ENSP00000431864.1:n.-98G>C | |
| ENST00000527860.5:c.-3+510G>C | ENSP00000432759.1:n.-3+510G>C | |
| ENST00000532743.5:c.-98G>C | ENSP00000433924.1:n.-98G>C | |
| ENST00000557850.5:c.-98G>C | ENSP00000454176.1:n.-98G>C | |
| NM_001164269.1:c.-3+9G>C | NP_001157741.1:n.-3+9G>C | |
| NM_001164270.1:c.-98G>C | NP_001157742.1:n.-98G>C | |
| NM_002875.4:c.-98G>C | NP_002866.2:n.-98G>C | |
| NM_133487.3:c.-98G>C | NP_597994.3:n.-98G>C | |
| XM_011521857.1:c.-3+510G>C | XP_011520159.1:n.-3+510G>C | |
| XM_011521860.1:c.-3+9G>C | XP_011520162.1:n.-3+9G>C | |
| XM_011521861.1:c.-3+510G>C | XP_011520163.1:n.-3+510G>C | |
| XM_011521862.1:c.-352G>C | XP_011520164.1:n.-352G>C | |
| XM_011521857.2:c.-3+510G>C | XP_011520159.1:n.-3+510G>C | |
| XM_011521860.2:c.-3+9G>C | XP_011520162.1:n.-3+9G>C | |
| XM_011521861.2:c.-3+510G>C | XP_011520163.1:n.-3+510G>C | |
| XM_011521862.3:c.-352G>C | XP_011520164.1:n.-352G>C | |
| NM_001164269.2:c.-3+9G>C | NP_001157741.1:n.-3+9G>C | |
| NM_001164270.2:c.-98G>C | NP_001157742.1:n.-98G>C | |
| NM_002875.5:c.-98G>C MANE Select | NP_002866.2:n.-98G>C | |
| NM_133487.4:c.-98G>C | NP_597994.3:n.-98G>C |