Linked Data
ClinVar Variation Id:
1978084
ClinVar RCV Id:
RCV002741658
dbSNP Id:
rs371928795
ExAC:
1:11737016 A / G
gnomAD v2:
1-11737016-A-G
gnomAD v3:
1-11676959-A-G
gnomAD v4:
1-11676959-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11676959A>G , CM000663.2:g.11676959A>G | GRCh38 |
| NC_000001.10:g.11737016A>G , CM000663.1:g.11737016A>G | GRCh37 |
| NC_000001.9:g.11659603A>G | NCBI36 |
| NG_052907.1:g.19830T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376664.11:n.347-11T>C | ||
| ENST00000456915.2:c.232-11T>C | ENSP00000400982.2:n.232-11T>C | |
| ENST00000697273.1:c.*51-11T>C | ENSP00000513220.1:n.*51-11T>C | |
| ENST00000697274.1:c.232-11T>C | ENSP00000513221.1:n.232-11T>C | |
| ENST00000376692.9:c.232-11T>C MANE Select | ENSP00000365882.4:n.232-11T>C | |
| ENST00000235310.7:c.232-11T>C | ENSP00000235310.2:n.232-11T>C | |
| ENST00000376655.1:n.1008T>C | ||
| ENST00000376664.10:n.317-11T>C | ||
| ENST00000376667.7:c.232-11T>C | ENSP00000365855.3:n.232-11T>C | |
| ENST00000376669.9:c.232-11T>C | ENSP00000365857.5:n.232-11T>C | |
| ENST00000376672.5:c.232-11T>C | ENSP00000365860.1:n.232-11T>C | |
| ENST00000376692.8:c.232-11T>C | ENSP00000365882.4:n.232-11T>C | |
| ENST00000445656.5:c.322-11T>C | ENSP00000411807.1:n.322-11T>C | |
| ENST00000456915.1:c.232-11T>C | ENSP00000400982.1:n.232-11T>C | |
| NM_001127325.1:c.232-11T>C | NP_001120797.1:n.232-11T>C | |
| NM_006341.3:c.232-11T>C | NP_006332.3:n.232-11T>C | |
| XM_011540507.1:c.232-11T>C | XP_011538809.1:n.232-11T>C | |
| XM_024450407.1:c.322-11T>C | XP_024306175.1:n.322-11T>C | |
| NM_006341.4:c.232-11T>C MANE Select | NP_006332.3:n.232-11T>C | |
| NM_001127325.2:c.232-11T>C | NP_001120797.1:n.232-11T>C |