Linked Data
ClinVar Variation Id:
533022
dbSNP Id:
rs201774571
ExAC:
4:83350596 G / A
gnomAD v2:
4-83350596-G-A
gnomAD v3:
4-82429443-G-A
gnomAD v4:
4-82429443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.82429443G>A , CM000666.2:g.82429443G>A | GRCh38 |
| NC_000004.11:g.83350596G>A , CM000666.1:g.83350596G>A | GRCh37 |
| NC_000004.10:g.83569620G>A | NCBI36 |
| NG_029681.1:g.5783C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295470.10:c.248C>T MANE Select | ENSP00000295470.5:p.Pro83Leu | |
| ENST00000295470.9:c.248C>T | ENSP00000295470.5:p.Pro83Leu | |
| ENST00000349655.8:c.-110C>T | ENSP00000338552.5:n.-110C>T | |
| ENST00000502762.4:c.248C>T | ENSP00000422040.1:p.Pro83Leu | |
| ENST00000614627.4:c.248C>T | ENSP00000478723.1:p.Pro83Leu | |
| ENST00000621267.4:c.248C>T | ENSP00000483254.1:p.Pro83Leu | |
| ENST00000630114.2:c.-79-31C>T | ENSP00000486452.1:n.-79-31C>T | |
| ENST00000630827.1:c.-79-31C>T | ENSP00000485954.1:n.-79-31C>T | |
| NM_001207000.1:c.248C>T | NP_001193929.1:p.Pro83Leu | |
| NM_031372.3:c.248C>T | NP_112740.1:p.Pro83Leu | |
| NR_003249.2:n.783C>T | ||
| NM_031372.4:c.248C>T MANE Select | NP_112740.1:p.Pro83Leu |