Linked Data
ClinVar Variation Id:
1393163
ClinVar RCV Id:
RCV001898175
dbSNP Id:
rs566829909
ExAC:
6:35782383 G / A
gnomAD v2:
6-35782383-G-A
gnomAD v3:
6-35814606-G-A
gnomAD v4:
6-35814606-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814606G>A , CM000668.2:g.35814606G>A | GRCh38 |
| NC_000006.11:g.35782383G>A , CM000668.1:g.35782383G>A | GRCh37 |
| NC_000006.10:g.35890361G>A | NCBI36 |
| NG_012184.1:g.14313G>A | |
| NG_012184.2:g.14313G>A | |
| NG_012184.3:g.22401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.473G>A MANE Select | ENSP00000353346.1:p.Arg158Gln | |
| ENST00000496656.2:n.252G>A | ||
| ENST00000651132.1:c.473G>A | ENSP00000498322.1:p.Arg158Gln | |
| ENST00000651676.1:c.473G>A | ENSP00000498699.1:p.Arg158Gln | |
| ENST00000651994.1:c.*70-4831G>A | ENSP00000498310.1:n.*70-4831G>A | |
| ENST00000652718.1:c.305G>A | ENSP00000498866.1:p.Arg102Gln | |
| ENST00000360215.2:c.473G>A | ENSP00000353346.1:p.Arg158Gln | |
| ENST00000496656.1:n.252G>A | ||
| NM_182548.3:c.473G>A | NP_872354.1:p.Arg158Gln | |
| XM_011514403.1:c.473G>A | XP_011512705.1:p.Arg158Gln | |
| NM_182548.4:c.473G>A MANE Select | NP_872354.1:p.Arg158Gln |