Linked Data
ClinVar Variation Id:
127057
ClinVar RCV Id:
RCV000114923
dbSNP Id:
rs104895071
gnomAD v2:
12-1040297-G-A
gnomAD v3:
12-931131-G-A
gnomAD v4:
12-931131-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.931131G>A , CM000674.2:g.931131G>A | GRCh38 |
| NC_000012.11:g.1040297G>A , CM000674.1:g.1040297G>A | GRCh37 |
| NC_000012.10:g.910558G>A | NCBI36 |
| NG_017078.1:g.23567C>T | |
| NG_017078.2:g.63911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358495.8:c.186+89C>T MANE Select | ENSP00000351284.3:n.186+89C>T | |
| ENST00000228345.9:n.204+89C>T | ||
| ENST00000358495.7:c.186+89C>T | ENSP00000351284.3:n.186+89C>T | |
| ENST00000397230.6:c.186+89C>T | ENSP00000380407.2:n.186+89C>T | |
| ENST00000430095.6:c.186+89C>T | ENSP00000387901.2:n.186+89C>T | |
| ENST00000461568.5:c.186+89C>T | ENSP00000436008.1:n.186+89C>T | |
| ENST00000463750.5:n.268+89C>T | ||
| ENST00000468231.5:c.186+89C>T | ENSP00000434703.1:n.186+89C>T | |
| ENST00000481052.5:n.229+89C>T | ||
| ENST00000488642.6:n.285+89C>T | ||
| ENST00000536177.5:c.186+89C>T | ENSP00000440486.1:n.186+89C>T | |
| ENST00000539046.5:c.186+89C>T | ENSP00000445245.2:n.186+89C>T | |
| ENST00000541619.1:c.186+89C>T | ENSP00000438965.1:n.186+89C>T | |
| ENST00000542584.5:n.69-987C>T | ||
| ENST00000542785.5:c.186+89C>T | ENSP00000441073.1:n.186+89C>T | |
| ENST00000543912.5:c.186+89C>T | ENSP00000439583.1:n.186+89C>T | |
| ENST00000544742.5:c.186+89C>T | ENSP00000443254.1:n.186+89C>T | |
| ENST00000545564.5:c.186+89C>T | ENSP00000440268.1:n.186+89C>T | |
| ENST00000545967.1:n.143+89C>T | ||
| NM_001297419.1:c.186+89C>T | NP_001284348.1:n.186+89C>T | |
| NM_001297420.1:c.186+89C>T | NP_001284349.1:n.186+89C>T | |
| NM_001297421.1:c.-45-987C>T | NP_001284350.1:n.-45-987C>T | |
| NM_001297422.1:c.186+89C>T | NP_001284351.1:n.186+89C>T | |
| NM_134424.3:c.186+89C>T | NP_602296.2:n.186+89C>T | |
| NR_123713.1:n.401+89C>T | ||
| XM_005253720.3:c.186+89C>T | XP_005253777.1:n.186+89C>T | |
| XM_005253721.2:c.186+89C>T | XP_005253778.1:n.186+89C>T | |
| XM_011520990.1:c.186+89C>T | XP_011519292.1:n.186+89C>T | |
| XM_011520991.1:c.186+89C>T | XP_011519293.1:n.186+89C>T | |
| XM_011520992.1:c.186+89C>T | XP_011519294.1:n.186+89C>T | |
| XM_011520993.1:c.186+89C>T | XP_011519295.1:n.186+89C>T | |
| XM_011520994.1:c.186+89C>T | XP_011519296.1:n.186+89C>T | |
| XM_011520996.1:c.186+89C>T | XP_011519298.1:n.186+89C>T | |
| XR_931521.1:n.204+89C>T | ||
| XR_931522.1:n.276+89C>T | ||
| XM_005253720.5:c.186+89C>T | XP_005253777.1:n.186+89C>T | |
| XM_011520990.2:c.186+89C>T | XP_011519292.1:n.186+89C>T | |
| XM_011520991.2:c.186+89C>T | XP_011519293.1:n.186+89C>T | |
| XM_017019769.1:c.186+89C>T | XP_016875258.1:n.186+89C>T | |
| XM_017019770.1:c.186+89C>T | XP_016875259.1:n.186+89C>T | |
| XM_017019771.1:c.186+89C>T | XP_016875260.1:n.186+89C>T | |
| XR_001748836.1:n.276+89C>T | ||
| XR_001748837.1:n.276+89C>T | ||
| XR_001748838.2:n.276+89C>T | ||
| XR_001748839.1:n.276+89C>T | ||
| XR_002957366.1:n.276+89C>T | ||
| XR_002957367.1:n.276+89C>T | ||
| XR_931522.2:n.276+89C>T | ||
| NM_001297422.2:c.186+89C>T | NP_001284351.1:n.186+89C>T | |
| NM_134424.4:c.186+89C>T MANE Select | NP_602296.2:n.186+89C>T | |
| NM_001297421.2:c.-45-987C>T | NP_001284350.1:n.-45-987C>T | |
| NR_123713.2:n.373+89C>T |