Linked Data
ClinVar Variation Id:
343687
ClinVar RCV Id:
RCV000283359
dbSNP Id:
rs886058074
gnomAD v4:
3-149129616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149129616C>T , CM000665.2:g.149129616C>T | GRCh38 |
| NC_000003.11:g.148847403C>T , CM000665.1:g.148847403C>T | GRCh37 |
| NC_000003.10:g.150330093C>T | NCBI36 |
| NG_009847.1:g.5033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.6:c.-108C>T | ENSP00000296051.2:n.-108C>T | |
| NM_001308258.1:c.-108C>T | NP_001295187.1:n.-108C>T | |
| NM_032383.3:c.-108C>T | NP_115759.2:n.-108C>T | |
| NM_032383.4:c.-108C>T | NP_115759.2:n.-108C>T | |
| XM_005247834.3:c.-108C>T | XP_005247891.1:n.-108C>T | |
| XM_006713788.1:c.-108C>T | XP_006713851.1:n.-108C>T | |
| XR_924201.1:n.8C>T |