Linked Data
ClinVar Variation Id:
339781
dbSNP Id:
rs78250687
gnomAD v2:
21-35883535-G-A
gnomAD v3:
21-34511237-G-A
gnomAD v4:
21-34511237-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34511237G>A , CM000683.2:g.34511237G>A | GRCh38 |
| NC_000021.8:g.35883535G>A , CM000683.1:g.35883535G>A | GRCh37 |
| NC_000021.7:g.34805405G>A | NCBI36 |
| NG_009091.1:g.5079C>T , LRG_290:g.5079C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682732.1:n.835C>T | ||
| ENST00000683028.1:n.266C>T | ||
| ENST00000683564.1:n.267C>T | ||
| ENST00000684073.1:n.267C>T | ||
| ENST00000684114.1:c.759C>T | ||
| ENST00000684327.1:n.267C>T | ||
| ENST00000684541.1:c.*248C>T | ENSP00000508287.1:n.*248C>T | |
| ENST00000684616.1:n.328C>T | ||
| ENST00000399286.3:c.-298C>T MANE Select | ENSP00000382226.2:n.-298C>T | |
| ENST00000337385.7:c.-298C>T | ENSP00000337255.3:n.-298C>T | |
| ENST00000399284.1:c.-270C>T | ENSP00000382225.1:n.-270C>T | |
| ENST00000399286.2:c.-298C>T | ENSP00000382226.2:n.-298C>T | |
| ENST00000489175.1:n.260C>T | ||
| ENST00000611936.1:c.-187C>T | ENSP00000478215.1:n.-187C>T | |
| NM_000219.5:c.-298C>T | NP_000210.2:n.-298C>T | |
| NM_001270402.2:c.-298C>T | NP_001257331.1:n.-298C>T | |
| NM_001270403.2:c.-270C>T | NP_001257332.1:n.-270C>T | |
| NM_001270404.2:c.-187C>T | NP_001257333.1:n.-187C>T | |
| XM_011529557.1:c.32C>T | XP_011527859.1:p.Pro11Leu | |
| NM_000219.6:c.-298C>T MANE Select | NP_000210.2:n.-298C>T | |
| NM_001270402.3:c.-298C>T | NP_001257331.1:n.-298C>T | |
| NM_001270404.3:c.-187C>T | NP_001257333.1:n.-187C>T |