gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32431273 (NFE)
Genomes Max Group AF
0.3229563 (NFE)
Exomes Max Group AF
0.32402802 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90882002C>T , CM000677.2:g.90882002C>T | GRCh38 |
| NC_000015.9:g.91425232C>T , CM000677.1:g.91425232C>T | GRCh37 |
| NC_000015.8:g.89226236C>T | NCBI36 |
| NG_029671.1:g.2545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268171.8:c.*124C>T MANE Select | ENSP00000268171.2:n.*124C>T | |
| ENST00000680053.1:c.*124C>T | ENSP00000506143.1:n.*124C>T | |
| ENST00000680086.1:n.323+265C>T | ||
| ENST00000680687.1:c.*1733C>T | ENSP00000505177.1:n.*1733C>T | |
| ENST00000681804.1:c.*1869C>T | ENSP00000505828.1:n.*1869C>T | |
| ENST00000681865.1:c.*124C>T | ENSP00000505303.1:n.*124C>T | |
| ENST00000268171.7:c.*124C>T | ENSP00000268171.2:n.*124C>T | |
| ENST00000610579.4:c.*124C>T | ENSP00000484952.1:n.*124C>T | |
| ENST00000618099.4:c.*124C>T | ENSP00000483552.1:n.*124C>T | |
| NM_001289823.1:c.*124C>T | NP_001276752.1:n.*124C>T | |
| NM_001289824.1:c.*124C>T | NP_001276753.1:n.*124C>T | |
| NM_002569.3:c.*124C>T | NP_002560.1:n.*124C>T | |
| NM_002569.4:c.*124C>T MANE Select | NP_002560.1:n.*124C>T | |
| NM_001289823.2:c.*124C>T | NP_001276752.1:n.*124C>T | |
| NM_001289824.2:c.*124C>T | NP_001276753.1:n.*124C>T | |
| NM_001382619.1:c.*124C>T | NP_001369548.1:n.*124C>T | |
| NM_001382620.1:c.*124C>T | NP_001369549.1:n.*124C>T | |
| NM_001382621.1:c.*124C>T | NP_001369550.1:n.*124C>T | |
| NM_001382622.1:c.*540C>T | NP_001369551.1:n.*540C>T | |
| NR_168464.1:n.2732C>T |