gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41568112 (NFE)
Genomes Max Group AF
0.41568112 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73741338C>T , CM000666.2:g.73741338C>T | GRCh38 |
| NC_000004.11:g.74607055C>T , CM000666.1:g.74607055C>T | GRCh37 |
| NC_000004.10:g.74825919C>T | NCBI36 |
| NG_029889.1:g.5833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696131.1:c.*269-204C>T | ENSP00000512424.1:n.*269-204C>T | |
| ENST00000696132.1:c.*23-204C>T | ENSP00000512425.1:n.*23-204C>T | |
| ENST00000307407.8:c.65-204C>T MANE Select | ENSP00000306512.3:n.65-204C>T | |
| ENST00000307407.7:c.65-204C>T | ENSP00000306512.3:n.65-204C>T | |
| ENST00000401931.1:c.65-204C>T | ENSP00000385908.1:n.65-204C>T | |
| ENST00000483500.1:n.155-204C>T | ||
| NM_000584.3:c.65-204C>T | NP_000575.1:n.65-204C>T | |
| NM_001354840.1:c.65-204C>T | NP_001341769.1:n.65-204C>T | |
| NM_000584.4:c.65-204C>T MANE Select | NP_000575.1:n.65-204C>T | |
| NM_001354840.2:c.65-204C>T | NP_001341769.1:n.65-204C>T | |
| NM_001354840.3:c.65-204C>T | NP_001341769.1:n.65-204C>T |