gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6774223 (AFR)
Genomes Max Group AF
0.6774223 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167112608T>C , CM000668.2:g.167112608T>C | GRCh38 |
| NC_000006.11:g.167526096T>C , CM000668.1:g.167526096T>C | GRCh37 |
| NC_000006.10:g.167446086T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609590.2:n.2170-22326T>C | ||
| ENST00000705249.1:c.1066-23430T>C | ENSP00000516101.1:n.1066-23430T>C | |
| ENST00000705250.1:c.844-23430T>C | ENSP00000516102.1:n.844-23430T>C | |
| ENST00000705251.1:c.*713-23430T>C | ENSP00000516103.1:n.*713-23430T>C | |
| ENST00000705252.1:c.*536-23430T>C | ENSP00000516104.1:n.*536-23430T>C | |
| ENST00000705253.1:c.*536-23430T>C | ENSP00000516105.1:n.*536-23430T>C | |
| ENST00000705254.1:c.673-23430T>C | ENSP00000516106.1:n.673-23430T>C | |
| ENST00000705255.1:n.1692-23430T>C | ||
| ENST00000400926.5:c.-98+594T>C | ENSP00000383715.2:n.-98+594T>C | |
| NM_004367.5:c.-98+594T>C | NP_004358.2:n.-98+594T>C | |
| XR_943250.1:n.7889A>G | ||
| XR_943251.1:n.7308A>G | ||
| XR_001744467.2:n.5824A>G | ||
| XR_001744469.2:n.5754A>G | ||
| XR_943250.3:n.7656A>G | ||
| XR_943251.3:n.7316A>G | ||
| NM_004367.6:c.-98+594T>C | NP_004358.2:n.-98+594T>C |