gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65947431 (AMR)
Genomes Max Group AF
0.65947431 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75298143A>G , CM000678.2:g.75298143A>G | GRCh38 |
| NC_000016.9:g.75332041A>G , CM000678.1:g.75332041A>G | GRCh37 |
| NC_000016.8:g.73889542A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283882.4:c.810-4101T>C MANE Select | ENSP00000283882.3:n.810-4101T>C | |
| ENST00000283882.3:c.810-4101T>C | ENSP00000283882.3:n.810-4101T>C | |
| ENST00000562602.1:n.564+3614T>C | ||
| ENST00000564793.1:n.321-4101T>C | ||
| ENST00000570103.5:n.319-4101T>C | ||
| NM_006324.2:c.810-4101T>C | NP_006315.1:n.810-4101T>C | |
| XR_933180.1:n.1118+3614T>C | ||
| XR_001751819.2:n.1060-4101T>C | ||
| NM_006324.3:c.810-4101T>C MANE Select | NP_006315.1:n.810-4101T>C |