Linked Data
ClinVar Variation Id:
341996
ClinVar RCV Id:
RCV000394611
dbSNP Id:
rs886057608
gnomAD v2:
22-46731511-G-A
gnomAD v3:
22-46335614-G-A
gnomAD v4:
22-46335614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46335614G>A , CM000684.2:g.46335614G>A | GRCh38 |
| NC_000022.10:g.46731511G>A , CM000684.1:g.46731511G>A | GRCh37 |
| NC_000022.9:g.45110175G>A | NCBI36 |
| NG_012173.1:g.5214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290846.8:c.-151G>A | ENSP00000290846.4:n.-151G>A | |
| ENST00000381021.7:c.-151G>A | ENSP00000370409.3:n.-151G>A | |
| ENST00000441818.5:c.-151G>A | ENSP00000393014.1:n.-151G>A | |
| ENST00000453630.5:c.-151G>A | ENSP00000398488.1:n.-151G>A | |
| ENST00000456595.5:c.-151G>A | ENSP00000413880.1:n.-151G>A | |
| ENST00000457572.5:c.-151G>A | ENSP00000407700.1:n.-151G>A | |
| ENST00000486620.5:n.287-2165G>A | ||
| NM_001282782.1:c.-386G>A | NP_001269711.1:n.-386G>A | |
| NM_001282783.1:c.-405G>A | NP_001269712.1:n.-405G>A | |
| NM_001282784.1:c.-405G>A | NP_001269713.1:n.-405G>A | |
| NM_001282785.1:c.-151G>A | NP_001269714.1:n.-151G>A | |
| NM_018006.4:c.-151G>A | NP_060476.2:n.-151G>A | |
| NR_104240.1:n.214G>A | ||
| NR_104241.1:n.214G>A |