Linked Data
dbSNP Id:
rs1030157115
gnomAD v2:
14-65544531-C-T
gnomAD v3:
14-65077813-C-T
gnomAD v4:
14-65077813-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65077813C>T , CM000676.2:g.65077813C>T | GRCh38 |
| NC_000014.8:g.65544531C>T , CM000676.1:g.65544531C>T | GRCh37 |
| NC_000014.7:g.64614284C>T | NCBI36 |
| NG_029830.1:g.29697G>A , LRG_530:g.29697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.76+100G>A | ENSP00000452206.2:n.76+100G>A | |
| ENST00000556979.6:c.295+100G>A | ENSP00000452378.1:n.295+100G>A | |
| ENST00000358664.9:c.295+100G>A MANE Select | ENSP00000351490.4:n.295+100G>A | |
| ENST00000651648.1:c.145-7444G>A | ENSP00000498863.1:n.145-7444G>A | |
| ENST00000284165.10:c.395G>A | ENSP00000284165.6:p.Cys132Tyr | |
| ENST00000341653.6:c.171+15895G>A | ENSP00000342482.2:n.171+15895G>A | |
| ENST00000358402.8:c.268+100G>A | ENSP00000351175.4:n.268+100G>A | |
| ENST00000358664.8:c.295+100G>A | ENSP00000351490.4:n.295+100G>A | |
| ENST00000394606.6:c.295+100G>A | ENSP00000378104.2:n.295+100G>A | |
| ENST00000553928.5:c.295+100G>A | ENSP00000451907.1:n.295+100G>A | |
| ENST00000553951.1:n.472G>A | ||
| ENST00000555419.5:c.187+100G>A | ENSP00000452405.1:n.187+100G>A | |
| ENST00000555667.5:c.268+100G>A | ENSP00000452286.1:n.268+100G>A | |
| ENST00000555932.5:c.37-1150G>A | ENSP00000450763.1:n.37-1150G>A | |
| ENST00000556443.5:c.368G>A | ENSP00000450818.1:p.Cys123Tyr | |
| ENST00000556892.5:c.76+100G>A | ENSP00000452206.1:n.76+100G>A | |
| ENST00000556979.5:c.295+100G>A | ENSP00000452378.1:n.295+100G>A | |
| ENST00000557277.5:c.21+100G>A | ENSP00000450955.1:n.21+100G>A | |
| ENST00000557746.5:c.268+100G>A | ENSP00000452197.1:n.268+100G>A | |
| ENST00000618858.4:c.295+100G>A | ENSP00000480127.1:n.295+100G>A | |
| NM_001271069.1:c.144+15895G>A | NP_001257998.1:n.144+15895G>A | |
| NM_002382.4:c.295+100G>A | NP_002373.3:n.295+100G>A | |
| NM_145112.2:c.268+100G>A | NP_660087.1:n.268+100G>A | |
| NM_145113.2:c.295+100G>A | NP_660088.1:n.295+100G>A | |
| NM_197957.3:c.171+15895G>A | NP_932061.1:n.171+15895G>A | |
| NR_073137.1:n.419+100G>A | ||
| XM_011536773.1:c.295+100G>A | XP_011535075.1:n.295+100G>A | |
| XR_429315.2:n.497+100G>A | ||
| XR_943450.1:n.497+100G>A | ||
| XR_943451.1:n.497+100G>A | ||
| XR_943452.1:n.459+100G>A | ||
| NM_001320415.1:c.21+100G>A | NP_001307344.1:n.21+100G>A | |
| XM_011536773.3:c.295+100G>A | XP_011535075.1:n.295+100G>A | |
| XM_017021312.2:c.21+100G>A | XP_016876801.1:n.21+100G>A | |
| XM_017021313.1:c.21+100G>A | XP_016876802.1:n.21+100G>A | |
| XR_001750326.2:n.458+100G>A | ||
| XR_001750327.2:n.458+100G>A | ||
| XR_002957553.1:n.588G>A | ||
| XR_943450.3:n.497+100G>A | ||
| XR_943451.3:n.497+100G>A | ||
| XR_943452.3:n.458+100G>A | ||
| NM_001320415.2:c.21+100G>A | NP_001307344.1:n.21+100G>A | |
| NM_002382.5:c.295+100G>A MANE Select | NP_002373.3:n.295+100G>A | |
| NM_145112.3:c.268+100G>A | NP_660087.1:n.268+100G>A | |
| NM_145113.3:c.295+100G>A | NP_660088.1:n.295+100G>A | |
| NM_001271069.2:c.144+15895G>A | NP_001257998.1:n.144+15895G>A | |
| NM_197957.4:c.171+15895G>A | NP_932061.1:n.171+15895G>A |