Linked Data
ClinVar Variation Id:
335207
dbSNP Id:
rs577432343
gnomAD v2:
2-240964811-C-A
gnomAD v3:
2-240025394-C-A
gnomAD v4:
2-240025394-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240025394C>A , CM000664.2:g.240025394C>A | GRCh38 |
| NC_000002.11:g.240964811C>A , CM000664.1:g.240964811C>A | GRCh37 |
| NC_000002.10:g.240613484C>A | NCBI36 |
| NG_031855.1:g.5009G>T | |
| NG_031855.2:g.5009G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476216.6:n.172+178G>T | ||
| ENST00000677057.1:n.4G>T | ||
| ENST00000677395.1:c.-93G>T | ENSP00000502890.1:n.-93G>T | |
| ENST00000677692.1:n.4G>T | ||
| ENST00000678898.1:n.4G>T | ||
| ENST00000679183.1:c.-93G>T | ENSP00000503016.1:n.-93G>T | |
| ENST00000679332.1:n.4G>T | ||
| ENST00000252711.6:c.-93G>T | ENSP00000252711.2:n.-93G>T | |
| NM_004544.3:c.-93G>T | NP_004535.1:n.-93G>T | |
| NM_001322019.1:c.-93G>T | NP_001308948.1:n.-93G>T | |
| NM_001322020.1:c.-93G>T | NP_001308949.1:n.-93G>T | |
| NR_136155.1:n.9G>T | ||
| NR_136156.1:n.9G>T | ||
| NR_136157.1:n.9G>T | ||
| NR_136158.1:n.9G>T |