gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000226 (AMR)
Genomes Max Group AF
0.0000226 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186544404T>C , CM000666.2:g.186544404T>C | GRCh38 |
| NC_000004.11:g.187465558T>C , CM000666.1:g.187465558T>C | GRCh37 |
| NC_000004.10:g.187702552T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703170.1:c.185-9847A>G | ENSP00000515216.1:n.185-9847A>G | |
| ENST00000307161.5:c.185-9847A>G MANE Select | ENSP00000302811.5:n.185-9847A>G | |
| ENST00000509111.2:c.147+10778A>G | ||
| NM_005958.3:c.185-9847A>G | NP_005949.1:n.185-9847A>G | |
| XR_939589.1:n.1982-1240T>C | ||
| XR_939590.1:n.162-1240T>C | ||
| NM_005958.4:c.185-9847A>G MANE Select | NP_005949.1:n.185-9847A>G | |
| XR_939589.2:n.1982-1240T>C | ||
| XR_939590.2:n.162-1240T>C |