Linked Data
ClinVar Variation Id:
193718
dbSNP Id:
rs200131193
ExAC:
9:117166367 G / C
gnomAD v2:
9-117166367-G-C
gnomAD v3:
9-114404087-G-C
gnomAD v4:
9-114404087-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114404087G>C , CM000671.2:g.114404087G>C | GRCh38 |
| NC_000009.11:g.117166367G>C , CM000671.1:g.117166367G>C | GRCh37 |
| NC_000009.10:g.116206188G>C | NCBI36 |
| NG_016700.1:g.106370C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.581-10C>G | ENSP00000514396.1:n.581-10C>G | |
| ENST00000362057.4:c.2237-10C>G MANE Select | ENSP00000354623.3:n.2237-10C>G | |
| ENST00000674036.8:c.1210-10C>G | ||
| ENST00000674048.1:n.2118-10C>G | ||
| ENST00000265134.10:c.1088-10C>G | ENSP00000265134.6:n.1088-10C>G | |
| ENST00000362057.3:c.2237-10C>G | ENSP00000354623.3:n.2237-10C>G | |
| ENST00000374059.7:c.1184-10C>G | ENSP00000363172.3:n.1184-10C>G | |
| NM_001083885.2:c.1088-10C>G | NP_001077354.2:n.1088-10C>G | |
| NM_001173425.1:c.2237-13C>G | NP_001166896.1:n.2237-13C>G | |
| NM_015404.3:c.2237-10C>G | NP_056219.3:n.2237-10C>G | |
| XM_005251897.3:c.1574-10C>G | XP_005251954.2:n.1574-10C>G | |
| XM_011518484.1:c.2270-10C>G | XP_011516786.1:n.2270-10C>G | |
| XM_011518485.1:c.2270-10C>G | XP_011516787.1:n.2270-10C>G | |
| XM_011518486.1:c.2270-13C>G | XP_011516788.1:n.2270-13C>G | |
| XM_011518487.1:c.2144-10C>G | XP_011516789.1:n.2144-10C>G | |
| XM_011518488.1:c.2027-10C>G | XP_011516790.1:n.2027-10C>G | |
| XM_011518495.1:c.947-10C>G | XP_011516797.1:n.947-10C>G | |
| XR_929747.1:n.3174-10C>G | ||
| XR_929748.1:n.3072-10C>G | ||
| NM_001346890.1:c.1184-10C>G | NP_001333819.1:n.1184-10C>G | |
| XM_011518486.2:c.2270-13C>G | XP_011516788.1:n.2270-13C>G | |
| XM_011518487.2:c.2144-10C>G | XP_011516789.1:n.2144-10C>G | |
| XM_011518488.2:c.2027-10C>G | XP_011516790.1:n.2027-10C>G | |
| XR_929747.2:n.2485-10C>G | ||
| XR_929748.2:n.2383-10C>G | ||
| NM_015404.4:c.2237-10C>G MANE Select | NP_056219.3:n.2237-10C>G | |
| NM_001173425.2:c.2237-13C>G | NP_001166896.1:n.2237-13C>G | |
| NM_001083885.3:c.1088-10C>G | NP_001077354.2:n.1088-10C>G |