Linked Data
ClinVar Variation Id:
1060230
ClinVar RCV Id:
RCV002254644
dbSNP Id:
rs535313141
ExAC:
12:56397748 G / A
gnomAD v2:
12-56397748-G-A
gnomAD v3:
12-56003964-G-A
gnomAD v4:
12-56003964-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56003964G>A , CM000674.2:g.56003964G>A | GRCh38 |
| NC_000012.11:g.56397748G>A , CM000674.1:g.56397748G>A | GRCh37 |
| NC_000012.10:g.54684015G>A | NCBI36 |
| NG_008136.1:g.11706G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.575G>A MANE Select | ENSP00000266971.3:p.Arg192Gln | |
| ENST00000266971.7:c.575G>A | ENSP00000266971.3:p.Arg192Gln | |
| ENST00000356124.8:c.575G>A | ENSP00000348440.4:p.Arg192Gln | |
| ENST00000394109.7:c.575G>A | ENSP00000377668.3:p.Arg192Gln | |
| ENST00000394115.6:c.575G>A | ENSP00000377674.2:p.Arg192Gln | |
| ENST00000548274.5:c.575G>A | ENSP00000450245.1:p.Arg192Gln | |
| ENST00000550065.1:c.575G>A | ENSP00000450264.1:p.Arg192Gln | |
| ENST00000550340.5:n.460G>A | ||
| ENST00000551698.5:n.597G>A | ||
| ENST00000551841.6:c.268-190G>A | ENSP00000449443.1:n.268-190G>A | |
| NM_000456.2:c.575G>A | NP_000447.2:p.Arg192Gln | |
| NM_001032386.1:c.575G>A | NP_001027558.1:p.Arg192Gln | |
| NM_001032387.1:c.575G>A | NP_001027559.1:p.Arg192Gln | |
| XM_005269112.1:c.596G>A | XP_005269169.1:p.Arg199Gln | |
| XM_017019905.2:c.596G>A | XP_016875394.1:p.Arg199Gln | |
| XM_017019906.1:c.596G>A | XP_016875395.1:p.Arg199Gln | |
| XM_017019907.2:c.575G>A | XP_016875396.1:p.Arg192Gln | |
| XM_017019908.1:c.575G>A | XP_016875397.1:p.Arg192Gln | |
| XM_024449167.1:c.596G>A | XP_024304935.1:p.Arg199Gln | |
| NM_001032386.2:c.575G>A MANE Select | NP_001027558.1:p.Arg192Gln | |
| NM_000456.3:c.575G>A | NP_000447.2:p.Arg192Gln | |
| NM_001032387.2:c.575G>A | NP_001027559.1:p.Arg192Gln |