Linked Data
ClinVar Variation Id:
302330
ClinVar RCV Id:
RCV000294535
dbSNP Id:
rs753716470
gnomAD v3:
11-110230696-T-C
gnomAD v4:
11-110230696-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110230696T>C , CM000673.2:g.110230696T>C | GRCh38 |
| NC_000011.9:g.110101421T>C , CM000673.1:g.110101421T>C | GRCh37 |
| NC_000011.8:g.109606631T>C | NCBI36 |
| NG_023044.1:g.71017A>G | |
| NG_023044.2:g.71017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645312.1:c.391+1177A>G | ||
| ENST00000645495.2:c.*1173A>G MANE Select | ENSP00000496503.2:n.*1173A>G | |
| ENST00000645527.1:c.1587+2541A>G | ENSP00000496121.1:n.1587+2541A>G | |
| ENST00000646663.1:c.1748+1177A>G | ENSP00000494693.1:n.1748+1177A>G | |
| ENST00000647231.1:c.1748+1177A>G | ENSP00000496414.1:n.1748+1177A>G | |
| ENST00000343115.8:c.*1173A>G | ENSP00000342830.4:n.*1173A>G | |
| ENST00000405097.5:c.1748+1177A>G | ENSP00000384136.1:n.1748+1177A>G | |
| ENST00000527537.5:n.2154A>G | ||
| ENST00000528498.5:c.1748+1177A>G | ENSP00000432112.1:n.1748+1177A>G | |
| ENST00000528900.5:c.707+1177A>G | ENSP00000433580.1:n.707+1177A>G | |
| ENST00000530301.5:c.536+1177A>G | ENSP00000436277.1:n.536+1177A>G | |
| ENST00000530749.5:c.1748+1177A>G | ENSP00000437301.1:n.1748+1177A>G | |
| ENST00000532461.5:n.2040A>G | ||
| ENST00000544551.5:c.*1173A>G | ENSP00000445826.1:n.*1173A>G | |
| NM_001260492.1:c.1748+1177A>G | NP_001247421.1:n.1748+1177A>G | |
| NM_001260493.1:c.1748+1177A>G | NP_001247422.1:n.1748+1177A>G | |
| NM_001260494.1:c.*1173A>G | NP_001247423.1:n.*1173A>G | |
| NM_001260495.1:c.707+1177A>G | NP_001247424.1:n.707+1177A>G | |
| NM_001260496.1:c.536+1177A>G | NP_001247425.1:n.536+1177A>G | |
| NM_002906.3:c.*1173A>G | NP_002897.1:n.*1173A>G | |
| NM_001260492.2:c.1748+1177A>G | NP_001247421.1:n.1748+1177A>G | |
| NM_002906.4:c.*1173A>G MANE Select | NP_002897.1:n.*1173A>G | |
| NM_001260493.2:c.1748+1177A>G | NP_001247422.1:n.1748+1177A>G | |
| NM_001260494.2:c.*1173A>G | NP_001247423.1:n.*1173A>G | |
| NM_001260495.2:c.707+1177A>G | NP_001247424.1:n.707+1177A>G | |
| NM_001260496.2:c.536+1177A>G | NP_001247425.1:n.536+1177A>G |