Canonical Allele Identifier:
CA240383564
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2818656 (MID)
Genomes Max Group AF
0.27792334 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.84951863G>C , CM000674.2:g.84951863G>C | GRCh38 |
| NC_000012.11:g.85345642G>C , CM000674.1:g.85345642G>C | GRCh37 |
| NC_000012.10:g.83869773G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945152.1:n.316+30549G>C | ||
| XR_945153.1:n.301+13399G>C | ||
| XR_945154.1:n.174+37001G>C | ||
| XR_945155.1:n.330+30549G>C | ||
| XR_945152.2:n.316+30549G>C | ||
| XR_945154.2:n.174+37001G>C | ||
| XR_945155.2:n.888+30549G>C |