gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00030302 (AFR)
Genomes Max Group AF
0.00030302 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19578550T>C , CM000686.2:g.19578550T>C | GRCh38 |
| NC_000024.9:g.21740436T>C , CM000686.1:g.21740436T>C | GRCh37 |
| NC_000024.8:g.20199824T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686158.1:n.200-8660T>C | ||
| ENST00000686905.1:n.134-8660T>C | ||
| ENST00000693214.1:n.222-8660T>C | ||
| ENST00000445715.6:n.102-8660T>C | ||
| ENST00000407724.7:n.171-8660T>C | ||
| ENST00000445715.5:n.102-8660T>C | ||
| ENST00000447202.2:n.124-8660T>C | ||
| ENST00000447520.5:n.102-8660T>C | ||
| ENST00000459719.6:n.222-8660T>C | ||
| ENST00000538014.2:n.241-8660T>C | ||
| NR_045128.1:n.126-8660T>C | ||
| NR_045129.1:n.126-8660T>C |