ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00385565 (AFR)
Genomes Max Group AF
0.00379292 (AFR)
Exomes Max Group AF
0.0035898 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224458C>T , CM000679.2:g.7224458C>T | GRCh38 |
| NC_000017.10:g.7127777C>T , CM000679.1:g.7127777C>T | GRCh37 |
| NC_000017.9:g.7068501C>T | NCBI36 |
| NG_007975.1:g.9625C>T | |
| NG_008391.2:g.593G>A | |
| NG_033038.1:g.15087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1606-22C>T MANE Select | ENSP00000349297.5:n.1606-22C>T | |
| ENST00000322910.9:c.*1561-22C>T | ENSP00000325395.5:n.*1561-22C>T | |
| ENST00000350303.9:c.1540-22C>T | ENSP00000344152.5:n.1540-22C>T | |
| ENST00000356839.9:c.1606-22C>T | ENSP00000349297.5:n.1606-22C>T | |
| ENST00000542255.6:c.464-22C>T | ||
| ENST00000543245.6:c.1675-22C>T | ENSP00000438689.2:n.1675-22C>T | |
| ENST00000578319.5:n.165C>T | ||
| ENST00000578711.1:n.954C>T | ||
| ENST00000578809.5:n.178-22C>T | ||
| ENST00000579391.1:n.214-26C>T | ||
| ENST00000579425.5:n.722-22C>T | ||
| ENST00000579546.1:c.345-26C>T | ||
| ENST00000579894.5:n.393-22C>T | ||
| ENST00000582450.1:n.114-22C>T | ||
| ENST00000583074.5:n.227-22C>T | ||
| ENST00000583850.5:n.381-26C>T | ||
| ENST00000583858.5:c.537-22C>T | ||
| ENST00000585203.6:n.797-22C>T | ||
| NM_000018.3:c.1606-22C>T | NP_000009.1:n.1606-22C>T | |
| NM_001033859.2:c.1540-22C>T | NP_001029031.1:n.1540-22C>T | |
| NM_001270447.1:c.1675-22C>T | NP_001257376.1:n.1675-22C>T | |
| NM_001270448.1:c.1378-22C>T | NP_001257377.1:n.1378-22C>T | |
| XM_006721516.2:c.1606-22C>T | XP_006721579.2:n.1606-22C>T | |
| XM_011523829.1:c.1508-26C>T | XP_011522131.1:n.1508-26C>T | |
| XM_011523830.1:c.1508-26C>T | XP_011522132.1:n.1508-26C>T | |
| XR_934021.1:n.1713-26C>T | ||
| XR_934022.1:n.1615-22C>T | ||
| XR_934023.1:n.1615-22C>T | ||
| XM_006721516.3:c.1606-22C>T | XP_006721579.2:n.1606-22C>T | |
| XM_011523829.2:c.1508-26C>T | XP_011522131.1:n.1508-26C>T | |
| XM_011523830.2:c.1508-26C>T | XP_011522132.1:n.1508-26C>T | |
| XM_024450741.1:c.1572C>T | XP_024306509.1:p.Pro524= | |
| XR_934021.2:n.1665-26C>T | ||
| XR_934022.2:n.1567-22C>T | ||
| XR_934023.2:n.1567-22C>T | ||
| NM_000018.4:c.1606-22C>T MANE Select | NP_000009.1:n.1606-22C>T | |
| NM_001033859.3:c.1540-22C>T | NP_001029031.1:n.1540-22C>T | |
| NM_001270447.2:c.1675-22C>T | NP_001257376.1:n.1675-22C>T | |
| NM_001270448.2:c.1378-22C>T | NP_001257377.1:n.1378-22C>T |