gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27045152 (AFR)
Genomes Max Group AF
0.27045152 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30011802T>C , CM000668.2:g.30011802T>C | GRCh38 |
| NC_000006.11:g.29979579T>C , CM000668.1:g.29979579T>C | GRCh37 |
| NC_000006.10:g.30087558T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000702304.1:n.411-1971A>G | ||
| ENST00000688495.1:n.361-34407A>G | ||
| ENST00000376797.7:n.626-1971A>G | ||
| ENST00000420251.5:n.709-9070A>G | ||
| ENST00000425604.5:n.265-9070A>G | ||
| ENST00000448093.5:n.575-9070A>G | ||
| NR_026751.1:n.709-9070A>G | ||
| NR_026751.2:n.714-9070A>G |