gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23897842 (AFR)
Genomes Max Group AF
0.23897842 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33034013T>G , CM000681.2:g.33034013T>G | GRCh38 |
| NC_000019.9:g.33524919T>G , CM000681.1:g.33524919T>G | GRCh37 |
| NC_000019.8:g.38216759T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254260.8:c.186-7381A>C MANE Select | ENSP00000254260.2:n.186-7381A>C | |
| ENST00000254260.7:c.186-7381A>C | ENSP00000254260.2:n.186-7381A>C | |
| ENST00000588388.5:c.186-7381A>C | ENSP00000465898.1:n.186-7381A>C | |
| NM_033103.4:c.186-7381A>C | NP_149094.3:n.186-7381A>C | |
| NM_033103.5:c.186-7381A>C MANE Select | NP_149094.3:n.186-7381A>C |