Linked Data
ClinVar Variation Id:
313822
ClinVar RCV Id:
RCV000362163
dbSNP Id:
rs886050634
gnomAD v2:
14-65569137-C-T
gnomAD v3:
14-65102419-C-T
gnomAD v4:
14-65102419-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65102419C>T , CM000676.2:g.65102419C>T | GRCh38 |
| NC_000014.8:g.65569137C>T , CM000676.1:g.65569137C>T | GRCh37 |
| NC_000014.7:g.64638890C>T | NCBI36 |
| NG_029830.1:g.5091G>A , LRG_530:g.5091G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556892.6:c.-157+90G>A | ENSP00000452206.2:n.-157+90G>A | |
| ENST00000556979.6:c.-80G>A | ENSP00000452378.1:n.-80G>A | |
| ENST00000358664.9:c.-80G>A MANE Select | ENSP00000351490.4:n.-80G>A | |
| ENST00000246163.2:c.-80G>A | ENSP00000246163.2:n.-80G>A | |
| ENST00000284165.10:c.-80G>A | ENSP00000284165.6:n.-80G>A | |
| ENST00000358402.8:c.-80G>A | ENSP00000351175.4:n.-80G>A | |
| ENST00000358664.8:c.-80G>A | ENSP00000351490.4:n.-80G>A | |
| ENST00000394606.6:c.-80G>A | ENSP00000378104.2:n.-80G>A | |
| ENST00000554709.1:n.99G>A | ||
| ENST00000555667.5:c.-80G>A | ENSP00000452286.1:n.-80G>A | |
| ENST00000555932.5:c.-80G>A | ENSP00000450763.1:n.-80G>A | |
| ENST00000556443.5:c.-80G>A | ENSP00000450818.1:n.-80G>A | |
| ENST00000556702.1:n.60G>A | ||
| ENST00000556892.5:c.-157+90G>A | ENSP00000452206.1:n.-157+90G>A | |
| ENST00000556979.5:c.-80G>A | ENSP00000452378.1:n.-80G>A | |
| ENST00000557277.5:c.-239+90G>A | ENSP00000450955.1:n.-239+90G>A | |
| ENST00000557746.5:c.-80G>A | ENSP00000452197.1:n.-80G>A | |
| ENST00000618858.4:c.-80G>A | ENSP00000480127.1:n.-80G>A | |
| NM_001271068.1:c.-80G>A | NP_001257997.1:n.-80G>A | |
| NM_001271069.1:c.-80G>A | NP_001257998.1:n.-80G>A | |
| NM_002382.4:c.-80G>A | NP_002373.3:n.-80G>A | |
| NM_145112.2:c.-80G>A | NP_660087.1:n.-80G>A | |
| NM_145113.2:c.-80G>A | NP_660088.1:n.-80G>A | |
| NM_145114.2:c.-80G>A | NP_660089.1:n.-80G>A | |
| NM_197957.3:c.-80G>A | NP_932061.1:n.-80G>A | |
| NR_073137.1:n.187+90G>A | ||
| NR_073138.1:n.187+90G>A | ||
| XM_011536773.1:c.-80G>A | XP_011535075.1:n.-80G>A | |
| XR_429315.2:n.123G>A | ||
| XR_943450.1:n.123G>A | ||
| XR_943451.1:n.123G>A | ||
| XR_943452.1:n.112G>A | ||
| NM_001320415.1:c.-354G>A | NP_001307344.1:n.-354G>A | |
| XM_011536773.3:c.-80G>A | XP_011535075.1:n.-80G>A | |
| XM_017021312.2:c.-327G>A | XP_016876801.1:n.-327G>A | |
| XR_001750326.2:n.111G>A | ||
| XR_001750327.2:n.111G>A | ||
| XR_002957553.1:n.114G>A | ||
| XR_943450.3:n.123G>A | ||
| XR_943451.3:n.123G>A | ||
| XR_943452.3:n.111G>A | ||
| NM_001320415.2:c.-354G>A | NP_001307344.1:n.-354G>A | |
| NM_002382.5:c.-80G>A MANE Select | NP_002373.3:n.-80G>A | |
| NM_145112.3:c.-80G>A | NP_660087.1:n.-80G>A | |
| NM_145113.3:c.-80G>A | NP_660088.1:n.-80G>A | |
| NM_001271068.2:c.-80G>A | NP_001257997.1:n.-80G>A | |
| NM_001271069.2:c.-80G>A | NP_001257998.1:n.-80G>A | |
| NM_145114.3:c.-80G>A | NP_660089.1:n.-80G>A | |
| NM_197957.4:c.-80G>A | NP_932061.1:n.-80G>A |