gnomAD v4:
Joint Max Group AF
0.00000352 (NFE)
Exomes Max Group AF
0.00000503 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94018526T>C , CM000663.2:g.94018526T>C | GRCh38 |
| NC_000001.10:g.94484082T>C , CM000663.1:g.94484082T>C | GRCh37 |
| NC_000001.9:g.94256670T>C | NCBI36 |
| NG_009073.1:g.107624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5196+1056A>G MANE Select | ENSP00000359245.3:n.5196+1056A>G | |
| ENST00000370225.3:c.5196+1056A>G | ENSP00000359245.3:n.5196+1056A>G | |
| ENST00000536513.5:c.1572+1056A>G | ENSP00000439707.2:n.1572+1056A>G | |
| NM_000350.2:c.5196+1056A>G | NP_000341.2:n.5196+1056A>G | |
| NM_000350.3:c.5196+1056A>G MANE Select | NP_000341.2:n.5196+1056A>G |