Linked Data
ClinVar Variation Id:
103104
ClinVar RCV Id:
RCV000089364
dbSNP Id:
rs199476274
gnomAD v2:
7-30476845-G-C
gnomAD v3:
7-30437229-G-C
gnomAD v4:
7-30437229-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30437229G>C , CM000669.2:g.30437229G>C | GRCh38 |
| NC_000007.13:g.30476845G>C , CM000669.1:g.30476845G>C | GRCh37 |
| NC_000007.12:g.30443370G>C | NCBI36 |
| NG_013025.1:g.46549C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222823.9:c.2537+344C>G MANE Select | ENSP00000222823.4:n.2537+344C>G | |
| ENST00000222823.8:c.2537+344C>G | ENSP00000222823.4:n.2537+344C>G | |
| ENST00000434755.5:c.*247+344C>G | ENSP00000416946.1:n.*247+344C>G | |
| ENST00000489614.5:n.1838-7772C>G | ||
| NM_006092.2:c.2537+344C>G | NP_006083.1:n.2537+344C>G | |
| XM_005249568.1:c.2537+344C>G | XP_005249625.1:n.2537+344C>G | |
| XM_005249572.1:c.2537+344C>G | XP_005249629.1:n.2537+344C>G | |
| XM_005249576.1:c.1793+344C>G | XP_005249633.1:n.1793+344C>G | |
| XM_006715633.2:c.2537+344C>G | XP_006715696.1:n.2537+344C>G | |
| XM_011515079.1:c.2537+344C>G | XP_011513381.1:n.2537+344C>G | |
| XM_011515080.1:c.2537+344C>G | XP_011513382.1:n.2537+344C>G | |
| XM_011515081.1:c.2537+344C>G | XP_011513383.1:n.2537+344C>G | |
| XM_011515082.1:c.2537+344C>G | XP_011513384.1:n.2537+344C>G | |
| XM_011515083.1:c.2489+344C>G | XP_011513385.1:n.2489+344C>G | |
| XM_011515084.1:c.2454-1148C>G | XP_011513386.1:n.2454-1148C>G | |
| XM_011515085.1:c.2454-7772C>G | XP_011513387.1:n.2454-7772C>G | |
| XM_011515086.1:c.2453+8912C>G | XP_011513388.1:n.2453+8912C>G | |
| XR_926907.1:n.3115+344C>G | ||
| NM_001354849.1:c.2454-1148C>G | NP_001341778.1:n.2454-1148C>G | |
| NM_006092.3:c.2537+344C>G | NP_006083.1:n.2537+344C>G | |
| NR_149002.1:n.3199+344C>G | ||
| XM_011515080.2:c.2537+344C>G | XP_011513382.1:n.2537+344C>G | |
| XM_011515081.2:c.2537+344C>G | XP_011513383.1:n.2537+344C>G | |
| XM_017011674.1:c.2537+344C>G | XP_016867163.1:n.2537+344C>G | |
| XR_002956406.1:n.4969-7772C>G | ||
| XR_926908.2:n.3165+344C>G | ||
| NM_006092.4:c.2537+344C>G MANE Select | NP_006083.1:n.2537+344C>G | |
| NM_001354849.2:c.2454-1148C>G | NP_001341778.1:n.2454-1148C>G | |
| NR_149002.2:n.3117+344C>G |