Linked Data
ClinVar Variation Id:
339784
dbSNP Id:
rs539503433
gnomAD v2:
21-35884380-C-T
gnomAD v3:
21-34512082-C-T
gnomAD v4:
21-34512082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34512082C>T , CM000683.2:g.34512082C>T | GRCh38 |
| NC_000021.8:g.35884380C>T , CM000683.1:g.35884380C>T | GRCh37 |
| NC_000021.7:g.34806250C>T | NCBI36 |
| NG_009091.1:g.4234G>A , LRG_290:g.4234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682732.1:n.701G>A | ||
| ENST00000683028.1:n.132G>A | ||
| ENST00000683564.1:n.133G>A | ||
| ENST00000684073.1:n.133G>A | ||
| ENST00000684114.1:c.625G>A | ||
| ENST00000684327.1:n.133G>A | ||
| ENST00000684541.1:c.*114G>A | ENSP00000508287.1:n.*114G>A | |
| ENST00000684616.1:n.130G>A | ||
| ENST00000399286.3:c.-432G>A MANE Select | ENSP00000382226.2:n.-432G>A | |
| ENST00000399286.2:c.-432G>A | ENSP00000382226.2:n.-432G>A | |
| ENST00000489175.1:n.126G>A | ||
| NM_000219.5:c.-432G>A | NP_000210.2:n.-432G>A | |
| NM_000219.6:c.-432G>A MANE Select | NP_000210.2:n.-432G>A |