gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000723 (AFR)
Genomes Max Group AF
0.0000325 (AFR)
Exomes Max Group AF
0.00007714 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67612363C>T , CM000673.2:g.67612363C>T | GRCh38 |
| NC_000011.9:g.67379834C>T , CM000673.1:g.67379834C>T | GRCh37 |
| NC_000011.8:g.67136410C>T | NCBI36 |
| NG_013353.1:g.10512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1309-9C>T MANE Select | ENSP00000322450.6:n.1309-9C>T | |
| ENST00000647561.1:c.1309-9C>T | ENSP00000497587.1:n.1309-9C>T | |
| ENST00000322776.10:c.1309-9C>T | ENSP00000322450.6:n.1309-9C>T | |
| ENST00000415352.6:c.1288-9C>T | ENSP00000395368.2:n.1288-9C>T | |
| ENST00000526770.5:n.1592-9C>T | ||
| ENST00000527355.5:c.516-9C>T | ENSP00000432637.1:n.516-9C>T | |
| ENST00000529927.5:c.1282-9C>T | ENSP00000436766.1:n.1282-9C>T | |
| ENST00000531250.1:n.573-9C>T | ||
| ENST00000532303.5:c.1006-9C>T | ENSP00000432015.1:n.1006-9C>T | |
| ENST00000533919.5:c.713-9C>T | ENSP00000435199.1:n.713-9C>T | |
| ENST00000534352.1:n.548-9C>T | ||
| NM_001166102.1:c.1282-9C>T | NP_001159574.1:n.1282-9C>T | |
| NM_007103.3:c.1309-9C>T | NP_009034.2:n.1309-9C>T | |
| NM_001166102.2:c.1282-9C>T | NP_001159574.1:n.1282-9C>T | |
| NM_007103.4:c.1309-9C>T MANE Select | NP_009034.2:n.1309-9C>T |