gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00042636 (NFE)
Genomes Max Group AF
0.00038031 (NFE)
Exomes Max Group AF
0.0004227 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46883643C>T , CM000665.2:g.46883643C>T | GRCh38 |
| NC_000003.11:g.46925133C>T , CM000665.1:g.46925133C>T | GRCh37 |
| NC_000003.10:g.46900137C>T | NCBI36 |
| NG_007555.2:g.3527G>A , LRG_395:g.3527G>A | |
| NG_008864.1:g.10898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449590.6:c.75+9C>T MANE Select | ENSP00000402723.1:n.75+9C>T | |
| ENST00000313049.9:c.75+9C>T | ENSP00000321999.4:n.75+9C>T | |
| ENST00000418619.5:c.75+9C>T | ENSP00000411424.1:n.75+9C>T | |
| ENST00000427125.6:c.75+9C>T | ENSP00000400977.2:n.75+9C>T | |
| ENST00000428220.1:c.75+9C>T | ENSP00000389811.1:n.75+9C>T | |
| ENST00000430002.6:c.75+9C>T | ENSP00000413774.2:n.75+9C>T | |
| ENST00000449590.5:c.75+9C>T | ENSP00000402723.1:n.75+9C>T | |
| NM_000316.2:c.75+9C>T | NP_000307.1:n.75+9C>T | |
| NM_001184744.1:c.75+9C>T | NP_001171673.1:n.75+9C>T | |
| XM_011533967.1:c.75+9C>T | XP_011532269.1:n.75+9C>T | |
| XM_011533968.1:c.57+2525C>T | XP_011532270.1:n.57+2525C>T | |
| XM_011533967.3:c.75+9C>T | XP_011532269.1:n.75+9C>T | |
| XM_011533968.2:c.57+2525C>T | XP_011532270.1:n.57+2525C>T | |
| XM_017006932.2:c.75+9C>T | XP_016862421.1:n.75+9C>T | |
| XM_017006933.1:c.75+9C>T | XP_016862422.1:n.75+9C>T | |
| XM_017006934.1:c.75+9C>T | XP_016862423.1:n.75+9C>T | |
| NM_000316.3:c.75+9C>T MANE Select | NP_000307.1:n.75+9C>T |