gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19402542 (AMR)
Genomes Max Group AF
0.19402542 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88086259T>C , CM000673.2:g.88086259T>C | GRCh38 |
| NC_000011.9:g.87819427T>C , CM000673.1:g.87819427T>C | GRCh37 |
| NC_000011.8:g.87459075T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017017455.2:c.483+63416A>G | XP_016872944.1:n.483+63416A>G | |
| XM_017017456.2:c.483+63416A>G | XP_016872945.1:n.483+63416A>G |