Linked Data
ClinVar Variation Id:
339783
dbSNP Id:
rs41315351
gnomAD v2:
21-35884312-C-T
gnomAD v3:
21-34512014-C-T
gnomAD v4:
21-34512014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34512014C>T , CM000683.2:g.34512014C>T | GRCh38 |
| NC_000021.8:g.35884312C>T , CM000683.1:g.35884312C>T | GRCh37 |
| NC_000021.7:g.34806182C>T | NCBI36 |
| NG_009091.1:g.4302G>A , LRG_290:g.4302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682732.1:n.756+13G>A | ||
| ENST00000683028.1:n.187+13G>A | ||
| ENST00000683564.1:n.188+13G>A | ||
| ENST00000684073.1:n.188+13G>A | ||
| ENST00000684114.1:c.680+13G>A | ||
| ENST00000684327.1:n.188+13G>A | ||
| ENST00000684541.1:c.*169+13G>A | ENSP00000508287.1:n.*169+13G>A | |
| ENST00000684616.1:n.185+13G>A | ||
| ENST00000399286.3:c.-377+13G>A MANE Select | ENSP00000382226.2:n.-377+13G>A | |
| ENST00000399286.2:c.-377+13G>A | ENSP00000382226.2:n.-377+13G>A | |
| ENST00000489175.1:n.181+13G>A | ||
| NM_000219.5:c.-377+13G>A | NP_000210.2:n.-377+13G>A | |
| NM_000219.6:c.-377+13G>A MANE Select | NP_000210.2:n.-377+13G>A |