gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003764 (NFE)
Genomes Max Group AF
0.00003764 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32275378G>C , CM000668.2:g.32275378G>C | GRCh38 |
| NC_000006.11:g.32243155G>C , CM000668.1:g.32243155G>C | GRCh37 |
| NC_000006.10:g.32351133G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515039.1:c.421+12569G>C | XP_011513341.1:n.421+12569G>C | |
| XM_011515040.1:c.421+12569G>C | XP_011513342.1:n.421+12569G>C | |
| NR_136244.1:n.440+12569G>C | ||
| NR_136245.1:n.242+19964G>C | ||
| NR_136246.1:n.242+19964G>C |