Linked Data
ClinVar Variation Id:
336886
ClinVar RCV Id:
RCV000297843
dbSNP Id:
rs774104725
ExAC:
2:69623275 C / T
gnomAD v2:
2-69623275-C-T
gnomAD v3:
2-69396143-C-T
gnomAD v4:
2-69396143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69396143C>T , CM000664.2:g.69396143C>T | GRCh38 |
| NC_000002.11:g.69623275C>T , CM000664.1:g.69623275C>T | GRCh37 |
| NC_000002.10:g.69476779C>T | NCBI36 |
| NG_031931.1:g.46486G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410022.7:c.*103G>A MANE Select | ENSP00000387219.3:n.*103G>A | |
| ENST00000303698.7:c.*103G>A | ENSP00000306965.3:n.*103G>A | |
| ENST00000394305.5:c.*103G>A | ENSP00000377842.1:n.*103G>A | |
| ENST00000410022.6:c.*103G>A | ENSP00000387219.2:n.*103G>A | |
| ENST00000462320.5:c.*103G>A | ENSP00000418598.1:n.*103G>A | |
| ENST00000471185.5:n.570G>A | ||
| ENST00000474230.5:c.643G>A | ENSP00000418882.1:n.643G>A | |
| NM_001002755.2:c.*103G>A | NP_001002755.1:n.*103G>A | |
| NM_001002756.2:c.*103G>A | NP_001002756.1:n.*103G>A | |
| NM_015700.3:c.*103G>A | NP_056515.2:n.*103G>A | |
| NR_045631.1:n.938G>A | ||
| NR_045632.1:n.763G>A | ||
| XM_017003808.2:c.*103G>A | XP_016859297.1:n.*103G>A | |
| NM_001002755.4:c.*103G>A MANE Select | NP_001002755.1:n.*103G>A | |
| NM_001374284.1:c.*103G>A | NP_001361213.1:n.*103G>A | |
| NM_015700.4:c.*103G>A | NP_056515.2:n.*103G>A | |
| NR_045631.2:n.745G>A | ||
| NR_045632.2:n.570G>A |