Linked Data
ClinVar Variation Id:
550681
ClinVar RCV Id:
RCV000665491
dbSNP Id:
rs121965092
ExAC:
3:14187285 C / T
gnomAD v2:
3-14187285-C-T
gnomAD v3:
3-14145785-C-T
gnomAD v4:
3-14145785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14145785C>T , CM000665.2:g.14145785C>T | GRCh38 |
| NC_000003.11:g.14187285C>T , CM000665.1:g.14187285C>T | GRCh37 |
| NC_000003.10:g.14162286C>T | NCBI36 |
| NG_011763.1:g.37888G>A , LRG_472:g.37888G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000285021.12:c.*156G>A MANE Select | ENSP00000285021.8:n.*156G>A | |
| ENST00000285021.11:c.*156G>A | ENSP00000285021.7:n.*156G>A | |
| ENST00000476581.6:c.*2432G>A | ENSP00000424548.1:n.*2432G>A | |
| ENST00000601399.3:n.689+102C>T | ||
| ENST00000608606.1:c.598+102C>T | ||
| ENST00000626721.1:n.588+102C>T | ||
| NM_004628.4:c.*156G>A , LRG_472t1:c.*156G>A | NP_004619.3:n.*156G>A | |
| NR_027299.1:n.2959G>A | ||
| NM_001354726.1:c.*156G>A | NP_001341655.1:n.*156G>A | |
| NM_001354727.1:c.*156G>A | NP_001341656.1:n.*156G>A | |
| NM_001354729.1:c.*156G>A | NP_001341658.1:n.*156G>A | |
| NM_001354730.1:c.*156G>A | NP_001341659.1:n.*156G>A | |
| NR_148950.1:n.2922G>A | ||
| NR_148951.1:n.2798G>A | ||
| XR_001740256.2:n.3286G>A | ||
| XR_002959580.1:n.3361G>A | ||
| XR_002959581.1:n.4629G>A | ||
| NM_001354727.2:c.*156G>A | NP_001341656.1:n.*156G>A | |
| NM_004628.5:c.*156G>A MANE Select | NP_004619.3:n.*156G>A | |
| NR_148950.2:n.2851G>A | ||
| NR_148951.2:n.2727G>A | ||
| NM_001354726.2:c.*156G>A | NP_001341655.1:n.*156G>A | |
| NM_001354729.2:c.*156G>A | NP_001341658.1:n.*156G>A | |
| NM_001354730.2:c.*156G>A | NP_001341659.1:n.*156G>A |