Linked Data
dbSNP Id:
rs4971516
gnomAD v2:
2-20903015-T-C
gnomAD v3:
2-20703255-T-C
gnomAD v4:
2-20703255-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20703255T>C , CM000664.2:g.20703255T>C | GRCh38 |
| NC_000002.11:g.20903015T>C , CM000664.1:g.20903015T>C | GRCh37 |
| NC_000002.10:g.20766496T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237822.8:c.704-1603A>G MANE Select | ENSP00000237822.3:n.704-1603A>G | |
| ENST00000237822.7:c.704-1603A>G | ENSP00000237822.3:n.704-1603A>G | |
| ENST00000381090.7:c.704-1603A>G | ENSP00000370480.3:n.704-1603A>G | |
| ENST00000403006.6:c.314-1603A>G | ENSP00000384267.1:n.314-1603A>G | |
| ENST00000432947.1:c.314-1603A>G | ENSP00000396911.1:n.314-1603A>G | |
| ENST00000435420.6:c.578-1603A>G | ENSP00000388635.3:n.578-1603A>G | |
| ENST00000440866.6:c.469-1603A>G | ENSP00000400340.2:n.469-1603A>G | |
| ENST00000470099.1:n.22-1603A>G | ||
| ENST00000541941.5:c.314-1603A>G | ENSP00000440570.1:n.314-1603A>G | |
| ENST00000619656.4:c.314-1603A>G | ENSP00000483067.1:n.314-1603A>G | |
| ENST00000626491.2:c.560-1603A>G | ENSP00000487592.1:n.560-1603A>G | |
| NM_001282719.1:c.578-1603A>G | NP_001269648.1:n.578-1603A>G | |
| NM_001282720.1:c.560-1603A>G | NP_001269649.1:n.560-1603A>G | |
| NM_001282721.1:c.314-1603A>G | NP_001269650.1:n.314-1603A>G | |
| NM_001282722.1:c.314-1603A>G | NP_001269651.1:n.314-1603A>G | |
| NM_001282723.1:c.469-1603A>G | NP_001269652.1:n.469-1603A>G | |
| NM_001282724.1:c.343-1603A>G | NP_001269653.1:n.343-1603A>G | |
| NM_021925.3:c.704-1603A>G | NP_068744.1:n.704-1603A>G | |
| NR_104233.1:n.409-1603A>G | ||
| XM_011533014.1:c.722-1603A>G | XP_011531316.1:n.722-1603A>G | |
| XR_939700.1:n.825-1603A>G | ||
| XR_939701.1:n.825-1603A>G | ||
| XR_939702.1:n.825-1603A>G | ||
| XR_939703.1:n.590-1603A>G | ||
| XM_011533014.2:c.722-1603A>G | XP_011531316.1:n.722-1603A>G | |
| XR_001738874.1:n.827-1603A>G | ||
| XR_001738875.2:n.827-1603A>G | ||
| XR_001738876.2:n.759-1603A>G | ||
| XR_001738877.2:n.759-1603A>G | ||
| XR_001738878.2:n.577-1603A>G | ||
| XR_001738879.2:n.524-1603A>G | ||
| XR_939700.2:n.827-1603A>G | ||
| XR_939701.2:n.827-1603A>G | ||
| XR_939702.3:n.827-1603A>G | ||
| XR_939703.2:n.592-1603A>G | ||
| NM_021925.4:c.704-1603A>G MANE Select | NP_068744.1:n.704-1603A>G | |
| NM_001282720.2:c.560-1603A>G | NP_001269649.1:n.560-1603A>G | |
| NM_001282724.2:c.343-1603A>G | NP_001269653.1:n.343-1603A>G | |
| NR_104233.2:n.380-1603A>G | ||
| NM_001282719.2:c.578-1603A>G | NP_001269648.1:n.578-1603A>G | |
| NM_001282721.2:c.314-1603A>G | NP_001269650.1:n.314-1603A>G | |
| NM_001282722.2:c.314-1603A>G | NP_001269651.1:n.314-1603A>G | |
| NM_001282723.2:c.469-1603A>G | NP_001269652.1:n.469-1603A>G |