Linked Data
ClinVar Variation Id:
36970
ClinVar RCV Id:
RCV000030648
dbSNP Id:
rs397514485
PubMed:
PMID:22510445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66392676C>G , CM000674.2:g.66392676C>G | GRCh38 |
| NC_000012.11:g.66786456C>G , CM000674.1:g.66786456C>G | GRCh37 |
| NC_000012.10:g.65072723C>G | NCBI36 |
| NG_021400.1:g.291470G>C | |
| NG_021400.2:g.681590G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696989.1:c.2338+1G>C | ENSP00000513025.1:n.2338+1G>C | |
| ENST00000359742.9:c.2269+1G>C MANE Select | ENSP00000352780.4:n.2269+1G>C | |
| ENST00000359742.8:c.2269+1G>C | ENSP00000352780.4:n.2269+1G>C | |
| ENST00000398016.7:c.2113+1G>C | ENSP00000381098.3:n.2113+1G>C | |
| ENST00000536215.5:c.1789+1G>C | ENSP00000446011.1:n.1789+1G>C | |
| ENST00000538164.5:c.1713+1G>C | ||
| ENST00000538211.5:c.2113+1G>C | ENSP00000446047.1:n.2113+1G>C | |
| ENST00000540433.5:c.1945+1G>C | ENSP00000446024.1:n.1945+1G>C | |
| ENST00000540854.5:c.338-43430G>C | ENSP00000443006.1:n.338-43430G>C | |
| NM_001178074.1:c.2113+1G>C | NP_001171545.1:n.2113+1G>C | |
| NM_021150.3:c.2113+1G>C | NP_066973.2:n.2113+1G>C | |
| XM_005268754.3:c.2272+1G>C | XP_005268811.1:n.2272+1G>C | |
| XM_005268757.3:c.2191+1G>C | XP_005268814.1:n.2191+1G>C | |
| XM_011538089.1:c.2494+1G>C | XP_011536391.1:n.2494+1G>C | |
| XM_011538090.1:c.2494+1G>C | XP_011536392.1:n.2494+1G>C | |
| XM_011538091.1:c.2338+1G>C | XP_011536393.1:n.2338+1G>C | |
| XM_011538092.1:c.2338+1G>C | XP_011536394.1:n.2338+1G>C | |
| XM_011538093.1:c.2269+1G>C | XP_011536395.1:n.2269+1G>C | |
| XM_011538094.1:c.2101+1G>C | XP_011536396.1:n.2101+1G>C | |
| NM_001366722.1:c.2269+1G>C MANE Select | NP_001353651.1:n.2269+1G>C | |
| NM_001366723.1:c.2188+1G>C | NP_001353652.1:n.2188+1G>C | |
| NM_001366724.1:c.2191+1G>C | NP_001353653.1:n.2191+1G>C | |
| XM_005268754.4:c.2272+1G>C | XP_005268811.1:n.2272+1G>C | |
| XM_005268757.4:c.2191+1G>C | XP_005268814.1:n.2191+1G>C | |
| XM_017019098.1:c.2494+1G>C | XP_016874587.1:n.2494+1G>C | |
| XM_017019099.1:c.2347+1G>C | XP_016874588.1:n.2347+1G>C | |
| XM_017019100.1:c.2338+1G>C | XP_016874589.1:n.2338+1G>C | |
| NM_001178074.2:c.2113+1G>C | NP_001171545.1:n.2113+1G>C | |
| NM_021150.4:c.2113+1G>C | NP_066973.2:n.2113+1G>C | |
| NM_001379345.1:c.2347+1G>C | NP_001366274.1:n.2347+1G>C | |
| NM_001379346.1:c.2269+1G>C | NP_001366275.1:n.2269+1G>C | |
| NM_001379347.1:c.2191+1G>C | NP_001366276.1:n.2191+1G>C | |
| NM_001379348.1:c.2188+1G>C | NP_001366277.1:n.2188+1G>C | |
| NM_001379349.1:c.2116+1G>C | NP_001366278.1:n.2116+1G>C | |
| NM_001379351.1:c.2113+1G>C | NP_001366280.1:n.2113+1G>C |