Linked Data
ClinVar Variation Id:
302306
ClinVar RCV Id:
RCV000320286
dbSNP Id:
rs540576204
gnomAD v2:
11-110101226-T-G
gnomAD v3:
11-110230501-T-G
gnomAD v4:
11-110230501-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110230501T>G , CM000673.2:g.110230501T>G | GRCh38 |
| NC_000011.9:g.110101226T>G , CM000673.1:g.110101226T>G | GRCh37 |
| NC_000011.8:g.109606436T>G | NCBI36 |
| NG_023044.1:g.71212A>C | |
| NG_023044.2:g.71212A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645312.1:c.391+1372A>C | ||
| ENST00000645495.2:c.*1368A>C MANE Select | ENSP00000496503.2:n.*1368A>C | |
| ENST00000645527.1:c.1587+2736A>C | ENSP00000496121.1:n.1587+2736A>C | |
| ENST00000646663.1:c.1748+1372A>C | ENSP00000494693.1:n.1748+1372A>C | |
| ENST00000647231.1:c.1748+1372A>C | ENSP00000496414.1:n.1748+1372A>C | |
| ENST00000343115.8:c.*1368A>C | ENSP00000342830.4:n.*1368A>C | |
| ENST00000405097.5:c.1748+1372A>C | ENSP00000384136.1:n.1748+1372A>C | |
| ENST00000527537.5:n.2349A>C | ||
| ENST00000528498.5:c.1748+1372A>C | ENSP00000432112.1:n.1748+1372A>C | |
| ENST00000528900.5:c.707+1372A>C | ENSP00000433580.1:n.707+1372A>C | |
| ENST00000530301.5:c.536+1372A>C | ENSP00000436277.1:n.536+1372A>C | |
| ENST00000530749.5:c.1748+1372A>C | ENSP00000437301.1:n.1748+1372A>C | |
| ENST00000532461.5:n.2235A>C | ||
| ENST00000544551.5:c.*1368A>C | ENSP00000445826.1:n.*1368A>C | |
| NM_001260492.1:c.1748+1372A>C | NP_001247421.1:n.1748+1372A>C | |
| NM_001260493.1:c.1748+1372A>C | NP_001247422.1:n.1748+1372A>C | |
| NM_001260494.1:c.*1368A>C | NP_001247423.1:n.*1368A>C | |
| NM_001260495.1:c.707+1372A>C | NP_001247424.1:n.707+1372A>C | |
| NM_001260496.1:c.536+1372A>C | NP_001247425.1:n.536+1372A>C | |
| NM_002906.3:c.*1368A>C | NP_002897.1:n.*1368A>C | |
| NM_001260492.2:c.1748+1372A>C | NP_001247421.1:n.1748+1372A>C | |
| NM_002906.4:c.*1368A>C MANE Select | NP_002897.1:n.*1368A>C | |
| NM_001260493.2:c.1748+1372A>C | NP_001247422.1:n.1748+1372A>C | |
| NM_001260494.2:c.*1368A>C | NP_001247423.1:n.*1368A>C | |
| NM_001260495.2:c.707+1372A>C | NP_001247424.1:n.707+1372A>C | |
| NM_001260496.2:c.536+1372A>C | NP_001247425.1:n.536+1372A>C |