Linked Data
dbSNP Id:
rs2236164
gnomAD v2:
20-34097353-T-C
gnomAD v3:
20-35509524-T-C
gnomAD v4:
20-35509524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35509524T>C , CM000682.2:g.35509524T>C | GRCh38 |
| NC_000020.10:g.34097353T>C , CM000682.1:g.34097353T>C | GRCh37 |
| NC_000020.9:g.33560767T>C | NCBI36 |
| NG_051604.1:g.59387T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706827.1:c.*4804-474T>C | ENSP00000516575.1:n.*4804-474T>C | |
| ENST00000706828.1:c.7180-474T>C | ENSP00000516576.1:n.7180-474T>C | |
| ENST00000706829.1:c.7009-474T>C | ENSP00000516577.1:n.7009-474T>C | |
| ENST00000706830.1:c.6895-474T>C | ENSP00000516578.1:n.6895-474T>C | |
| ENST00000706831.1:n.4416-474T>C | ||
| ENST00000706832.1:n.1565T>C | ||
| ENST00000397527.6:c.7009-474T>C MANE Select | ENSP00000380661.1:n.7009-474T>C | |
| ENST00000397527.5:c.7009-474T>C | ENSP00000380661.1:n.7009-474T>C | |
| ENST00000422671.1:c.2370+1334T>C | ENSP00000395992.1:n.2370+1334T>C | |
| NM_007186.4:c.7009-474T>C | NP_009117.2:n.7009-474T>C | |
| XM_005260262.3:c.7009-474T>C | XP_005260319.1:n.7009-474T>C | |
| XM_005260263.3:c.7009-474T>C | XP_005260320.1:n.7009-474T>C | |
| XM_005260264.3:c.6778-474T>C | XP_005260321.1:n.6778-474T>C | |
| XM_005260265.2:c.5113-474T>C | XP_005260322.1:n.5113-474T>C | |
| XM_006723690.2:c.7009-474T>C | XP_006723753.1:n.7009-474T>C | |
| XM_006723691.1:c.7009-474T>C | XP_006723754.1:n.7009-474T>C | |
| XM_006723692.2:c.7009-474T>C | XP_006723755.1:n.7009-474T>C | |
| XM_006723693.2:c.7009-474T>C | XP_006723756.1:n.7009-474T>C | |
| XM_006723694.2:c.6895-474T>C | XP_006723757.1:n.6895-474T>C | |
| XM_006723695.2:c.6841-474T>C | XP_006723758.1:n.6841-474T>C | |
| XM_011528517.1:c.7009-474T>C | XP_011526819.1:n.7009-474T>C | |
| XM_011528518.1:c.6640-474T>C | XP_011526820.1:n.6640-474T>C | |
| XM_011528519.1:c.6403-474T>C | XP_011526821.1:n.6403-474T>C | |
| NM_001318219.1:c.5113-474T>C | NP_001305148.1:n.5113-474T>C | |
| NM_007186.5:c.7009-474T>C | NP_009117.2:n.7009-474T>C | |
| XM_005260262.4:c.7009-474T>C | XP_005260319.1:n.7009-474T>C | |
| XM_005260263.4:c.7009-474T>C | XP_005260320.1:n.7009-474T>C | |
| XM_005260264.4:c.6778-474T>C | XP_005260321.1:n.6778-474T>C | |
| XM_006723690.4:c.7009-474T>C | XP_006723753.1:n.7009-474T>C | |
| XM_006723692.4:c.7009-474T>C | XP_006723755.1:n.7009-474T>C | |
| XM_006723693.4:c.7009-474T>C | XP_006723756.1:n.7009-474T>C | |
| XM_006723694.3:c.6895-474T>C | XP_006723757.1:n.6895-474T>C | |
| XM_011528517.2:c.7009-474T>C | XP_011526819.1:n.7009-474T>C | |
| XM_011528518.3:c.6640-474T>C | XP_011526820.1:n.6640-474T>C | |
| XM_011528519.2:c.6403-474T>C | XP_011526821.1:n.6403-474T>C | |
| XM_017027617.1:c.6895-474T>C | XP_016883106.1:n.6895-474T>C | |
| XM_017027618.1:c.6277-474T>C | XP_016883107.1:n.6277-474T>C | |
| XM_017027619.1:c.5611-474T>C | XP_016883108.1:n.5611-474T>C | |
| NM_007186.6:c.7009-474T>C MANE Select | NP_009117.2:n.7009-474T>C |