Linked Data
ClinVar Variation Id:
1980557
ClinVar RCV Id:
RCV002761433
dbSNP Id:
rs934708789
gnomAD v2:
3-52326629-T-C
gnomAD v3:
3-52292613-T-C
gnomAD v4:
3-52292613-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52292613T>C , CM000665.2:g.52292613T>C | GRCh38 |
| NC_000003.11:g.52326629T>C , CM000665.1:g.52326629T>C | GRCh37 |
| NC_000003.10:g.52301669T>C | NCBI36 |
| NG_023246.1:g.9794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1059T>C MANE Select | ENSP00000389175.2:p.His353= | |
| ENST00000305690.12:c.*178T>C | ENSP00000301965.9:n.*178T>C | |
| ENST00000436784.6:c.1059T>C | ENSP00000389175.2:p.His353= | |
| ENST00000461183.5:c.763+44T>C | ENSP00000417264.1:n.763+44T>C | |
| ENST00000471180.5:c.634+44T>C | ENSP00000417526.1:n.634+44T>C | |
| ENST00000473032.5:c.530-433T>C | ENSP00000418951.1:n.530-433T>C | |
| ENST00000477382.1:c.*178T>C | ENSP00000419008.1:n.*178T>C | |
| ENST00000486393.5:c.*422T>C | ENSP00000419868.1:n.*422T>C | |
| ENST00000489173.1:n.1353T>C | ||
| NM_001144951.1:c.*178T>C | NP_001138423.1:n.*178T>C | |
| NM_145262.3:c.1059T>C | NP_660305.2:p.His353= | |
| NR_026699.1:n.1157T>C | ||
| NR_026700.1:n.695+44T>C | ||
| NR_026701.1:n.1155T>C | ||
| NR_026702.1:n.626-433T>C | ||
| XM_005264878.2:c.*178T>C | XP_005264935.1:n.*178T>C | |
| XR_245095.2:n.2742+44T>C | ||
| XM_017005730.1:c.678T>C | XP_016861219.1:p.His226= | |
| XM_024453351.1:c.1059T>C | XP_024309119.1:p.His353= | |
| XM_024453352.1:c.*178T>C | XP_024309120.1:n.*178T>C | |
| XR_001740022.2:n.2961T>C | ||
| XR_001740023.2:n.2917+44T>C | ||
| XR_245095.4:n.2743+44T>C | ||
| NM_145262.4:c.1059T>C MANE Select | NP_660305.2:p.His353= | |
| NR_026699.2:n.1149T>C | ||
| NR_026700.2:n.687+44T>C | ||
| NR_026701.2:n.1147T>C | ||
| NR_026702.2:n.618-433T>C | ||
| NM_001144951.2:c.*178T>C | NP_001138423.1:n.*178T>C |