Linked Data
ClinVar Variation Id:
300097
dbSNP Id:
rs4253006
gnomAD v2:
10-50747015-C-T
gnomAD v3:
10-49538969-C-T
gnomAD v4:
10-49538969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49538969C>T , CM000672.2:g.49538969C>T | GRCh38 |
| NC_000010.10:g.50747015C>T , CM000672.1:g.50747015C>T | GRCh37 |
| NC_000010.9:g.50417021C>T | NCBI36 |
| NG_009442.1:g.5133G>A , LRG_465:g.5133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.-22G>A MANE Select | ENSP00000348089.5:n.-22G>A | |
| ENST00000447839.7:c.-22G>A MANE Plus Clinical | ENSP00000387966.2:n.-22G>A | |
| ENST00000679596.1:c.-29G>A | ENSP00000504862.1:n.-29G>A | |
| ENST00000679811.1:n.62G>A | ||
| ENST00000680107.1:c.-22G>A | ENSP00000505909.1:n.-22G>A | |
| ENST00000680233.1:n.72G>A | ||
| ENST00000681632.1:n.57G>A | ||
| ENST00000681659.1:c.-18G>A | ENSP00000505631.1:n.-18G>A | |
| ENST00000355832.9:c.-22G>A | ENSP00000348089.5:n.-22G>A | |
| ENST00000447839.6:c.-22G>A | ENSP00000387966.2:n.-22G>A | |
| ENST00000462247.1:c.-15+463G>A | ENSP00000422827.1:n.-15+463G>A | |
| ENST00000515869.1:c.-15+463G>A | ENSP00000423550.1:n.-15+463G>A | |
| NM_000124.3:c.-22G>A | NP_000115.1:n.-22G>A | |
| NM_001277058.1:c.-22G>A | NP_001263987.1:n.-22G>A | |
| NM_001277059.1:c.-15+463G>A | NP_001263988.1:n.-15+463G>A | |
| NM_001346440.1:c.-18G>A | NP_001333369.1:n.-18G>A | |
| NM_000124.4:c.-22G>A MANE Select | NP_000115.1:n.-22G>A | |
| NM_001277058.2:c.-22G>A MANE Plus Clinical | NP_001263987.1:n.-22G>A | |
| NM_001277059.2:c.-15+463G>A | NP_001263988.1:n.-15+463G>A | |
| NM_001346440.2:c.-18G>A | NP_001333369.1:n.-18G>A |