Linked Data
ClinVar Variation Id:
339788
ClinVar RCV Id:
RCV002504146
dbSNP Id:
rs886057027
gnomAD v2:
21-35884478-C-T
gnomAD v3:
21-34512180-C-T
gnomAD v4:
21-34512180-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34512180C>T , CM000683.2:g.34512180C>T | GRCh38 |
| NC_000021.8:g.35884478C>T , CM000683.1:g.35884478C>T | GRCh37 |
| NC_000021.7:g.34806348C>T | NCBI36 |
| NG_009091.1:g.4136G>A , LRG_290:g.4136G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682732.1:n.603G>A | ||
| ENST00000683028.1:n.34G>A | ||
| ENST00000683564.1:n.35G>A | ||
| ENST00000684073.1:n.35G>A | ||
| ENST00000684114.1:c.527G>A | ||
| ENST00000684327.1:n.35G>A | ||
| ENST00000684541.1:c.*16G>A | ENSP00000508287.1:n.*16G>A | |
| ENST00000684616.1:n.32G>A | ||
| ENST00000399286.3:c.-530G>A MANE Select | ENSP00000382226.2:n.-530G>A | |
| ENST00000399286.2:c.-530G>A | ENSP00000382226.2:n.-530G>A | |
| ENST00000489175.1:n.28G>A | ||
| NM_000219.5:c.-530G>A | NP_000210.2:n.-530G>A | |
| NM_000219.6:c.-530G>A MANE Select | NP_000210.2:n.-530G>A |