Linked Data
ClinVar Variation Id:
568388
dbSNP Id:
rs372307204
ExAC:
X:53409526 G / C
gnomAD v2:
X-53409526-G-C
gnomAD v3:
X-53382605-G-C
gnomAD v4:
X-53382605-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53382605G>C , CM000685.2:g.53382605G>C | GRCh38 |
| NC_000023.10:g.53409526G>C , CM000685.1:g.53409526G>C | GRCh37 |
| NC_000023.9:g.53426251G>C | NCBI36 |
| NG_006988.2:g.45066C>G , LRG_773:g.45066C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3186C>G MANE Select | ENSP00000323421.3:p.Ile1062Met | |
| ENST00000674590.1:c.2418C>G | ENSP00000502626.1:p.Ile806Met | |
| ENST00000675504.1:c.3120C>G | ENSP00000502524.1:p.Ile1040Met | |
| ENST00000322213.8:c.3186C>G | ENSP00000323421.3:p.Ile1062Met | |
| ENST00000375340.10:c.3120C>G | ENSP00000364489.7:p.Ile1040Met | |
| ENST00000469129.1:n.42C>G | ||
| ENST00000470241.2:c.476C>G | ||
| NM_001281463.1:c.3120C>G , LRG_773t1:c.3120C>G | NP_001268392.1:p.Ile1040Met | |
| NM_006306.3:c.3186C>G , LRG_773t2:c.3186C>G | NP_006297.2:p.Ile1062Met | |
| NM_006306.4:c.3186C>G MANE Select | NP_006297.2:p.Ile1062Met |