Linked Data
dbSNP Id:
rs1314522569
gnomAD v2:
22-51160695-G-A
gnomAD v3:
22-50722267-G-A
gnomAD v4:
22-50722267-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50722267G>A , CM000684.2:g.50722267G>A | GRCh38 |
| NC_000022.10:g.51160695G>A , CM000684.1:g.51160695G>A | GRCh37 |
| NC_000022.9:g.49507561G>A | NCBI36 |
| NG_008607.2:g.52913G>A | |
| NG_070230.1:g.58051G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.4035G>A | ENSP00000489147.2:p.Val1345= | |
| ENST00000414786.7:n.4619G>A | ||
| ENST00000445220.7:c.3087G>A | ENSP00000489407.2:p.Val1029= | |
| ENST00000664402.2:c.2577G>A | ENSP00000499475.1:p.Val859= | |
| ENST00000673971.2:c.*3033G>A | ENSP00000501192.1:n.*3033G>A | |
| ENST00000445220.6:c.3087G>A | ENSP00000489407.2:p.Val1029= | |
| ENST00000262795.6:c.4035G>A | ENSP00000489147.2:p.Val1345= | |
| ENST00000664402.1:c.2577G>A | ENSP00000499475.1:p.Val859= | |
| ENST00000673971.1:c.*3033G>A | ENSP00000501192.1:n.*3033G>A | |
| ENST00000262795.5:c.4431G>A | ENSP00000489147.1:p.Val1477= | |
| ENST00000414786.6:n.4619G>A | ||
| ENST00000445220.5:c.4413G>A | ENSP00000489407.1:p.Val1471= |