Linked Data
ClinVar Variation Id:
2453606
ClinVar RCV Id:
RCV003187741
dbSNP Id:
rs574382204
ExAC:
3:142188973 T / C
gnomAD v2:
3-142188973-T-C
gnomAD v3:
3-142470131-T-C
gnomAD v4:
3-142470131-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142470131T>C , CM000665.2:g.142470131T>C | GRCh38 |
| NC_000003.11:g.142188973T>C , CM000665.1:g.142188973T>C | GRCh37 |
| NC_000003.10:g.143671663T>C | NCBI36 |
| NG_008951.1:g.113696A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.6274A>G MANE Select | ENSP00000343741.4:p.Thr2092Ala | |
| ENST00000513291.2:n.1458A>G | ||
| ENST00000654170.1:n.1117A>G | ||
| ENST00000656590.1:c.5064A>G | ||
| ENST00000661310.1:c.6082A>G | ENSP00000499589.1:p.Thr2028Ala | |
| ENST00000665483.1:n.129A>G | ||
| ENST00000666447.1:n.109A>G | ||
| ENST00000666943.1:n.1738A>G | ||
| ENST00000350721.8:c.6274A>G | ENSP00000343741.4:p.Thr2092Ala | |
| NM_001184.3:c.6274A>G | NP_001175.2:p.Thr2092Ala | |
| XM_011512924.1:c.6280A>G | XP_011511226.1:p.Thr2094Ala | |
| XM_011512925.1:c.6088A>G | XP_011511227.1:p.Thr2030Ala | |
| XR_924147.1:n.6369A>G | ||
| XR_924148.1:n.6369A>G | ||
| XR_924149.1:n.6248A>G | ||
| NM_001354579.1:c.6082A>G | NP_001341508.1:p.Thr2028Ala | |
| XR_001740179.2:n.6363A>G | ||
| XR_001740180.2:n.6417A>G | ||
| XR_001740181.2:n.6296A>G | ||
| XR_001740182.1:n.6248A>G | ||
| XR_002959543.1:n.6473A>G | ||
| XR_924148.2:n.6369A>G | ||
| NM_001184.4:c.6274A>G MANE Select | NP_001175.2:p.Thr2092Ala | |
| NM_001354579.2:c.6082A>G | NP_001341508.1:p.Thr2028Ala |