Linked Data
ClinVar Variation Id:
343548
ClinVar RCV Id:
RCV000406327
dbSNP Id:
rs776547561
gnomAD v2:
3-14186649-T-C
gnomAD v3:
3-14145149-T-C
gnomAD v4:
3-14145149-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14145149T>C , CM000665.2:g.14145149T>C | GRCh38 |
| NC_000003.11:g.14186649T>C , CM000665.1:g.14186649T>C | GRCh37 |
| NC_000003.10:g.14161650T>C | NCBI36 |
| NG_008975.1:g.25210T>C , LRG_435:g.25210T>C | |
| NG_011763.1:g.38524A>G , LRG_472:g.38524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.*792A>G MANE Select | ENSP00000285021.8:n.*792A>G | |
| ENST00000285021.11:c.*792A>G | ENSP00000285021.7:n.*792A>G | |
| ENST00000601399.3:n.328-173T>C | ||
| ENST00000608606.1:c.237-173T>C | ||
| ENST00000626721.1:n.227-173T>C | ||
| NM_004628.4:c.*792A>G , LRG_472t1:c.*792A>G | NP_004619.3:n.*792A>G | |
| NR_027299.1:n.3595A>G | ||
| NM_001354726.1:c.*792A>G | NP_001341655.1:n.*792A>G | |
| NM_001354727.1:c.*792A>G | NP_001341656.1:n.*792A>G | |
| NM_001354729.1:c.*792A>G | NP_001341658.1:n.*792A>G | |
| NM_001354730.1:c.*792A>G | NP_001341659.1:n.*792A>G | |
| NR_148950.1:n.3558A>G | ||
| NR_148951.1:n.3434A>G | ||
| XR_001740256.2:n.3922A>G | ||
| XR_002959580.1:n.3997A>G | ||
| XR_002959581.1:n.5265A>G | ||
| NM_001354727.2:c.*792A>G | NP_001341656.1:n.*792A>G | |
| NM_004628.5:c.*792A>G MANE Select | NP_004619.3:n.*792A>G | |
| NR_148950.2:n.3487A>G | ||
| NR_148951.2:n.3363A>G | ||
| NM_001354726.2:c.*792A>G | NP_001341655.1:n.*792A>G | |
| NM_001354729.2:c.*792A>G | NP_001341658.1:n.*792A>G | |
| NM_001354730.2:c.*792A>G | NP_001341659.1:n.*792A>G |