gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015266 (AMR)
Genomes Max Group AF
0.0000226 (AMR)
Exomes Max Group AF
0.00018701 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.218355C>T , CM000667.2:g.218355C>T | GRCh38 |
| NC_000005.9:g.218470C>T , CM000667.1:g.218470C>T | GRCh37 |
| NC_000005.8:g.271470C>T | NCBI36 |
| NG_012339.1:g.5115C>T | |
| NG_033064.1:g.4828G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.-1C>T MANE Select | ENSP00000264932.6:n.-1C>T | |
| ENST00000651543.1:c.-1C>T | ENSP00000499215.1:n.-1C>T | |
| ENST00000264932.10:c.-1C>T | ENSP00000264932.6:n.-1C>T | |
| ENST00000502379.5:n.45C>T | ||
| ENST00000504309.5:c.-1C>T | ENSP00000426514.1:n.-1C>T | |
| ENST00000505555.5:n.40C>T | ||
| ENST00000509632.5:c.-1C>T | ENSP00000425077.1:n.-1C>T | |
| ENST00000510361.5:c.-1C>T | ENSP00000427703.1:n.-1C>T | |
| ENST00000617470.4:c.-1C>T | ENSP00000484230.1:n.-1C>T | |
| NM_001294332.1:c.-1C>T | NP_001281261.1:n.-1C>T | |
| NM_004168.3:c.-1C>T | NP_004159.2:n.-1C>T | |
| XM_005248331.2:c.-1C>T | XP_005248388.1:n.-1C>T | |
| XM_011514072.1:c.-1C>T | XP_011512374.1:n.-1C>T | |
| XM_011514073.1:c.-1C>T | XP_011512375.1:n.-1C>T | |
| XR_925638.1:n.133C>T | ||
| NM_001330758.1:c.-1C>T | NP_001317687.1:n.-1C>T | |
| XM_011514072.2:c.-1C>T | XP_011512374.1:n.-1C>T | |
| XM_011514073.2:c.-1C>T | XP_011512375.1:n.-1C>T | |
| XM_017009685.2:c.-1C>T | XP_016865174.1:n.-1C>T | |
| XM_024446143.1:c.-1C>T | XP_024301911.1:n.-1C>T | |
| XR_002956167.1:n.47C>T | ||
| NM_004168.4:c.-1C>T MANE Select | NP_004159.2:n.-1C>T | |
| NM_001294332.2:c.-1C>T | NP_001281261.1:n.-1C>T | |
| NM_001330758.2:c.-1C>T | NP_001317687.1:n.-1C>T |