gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73490288 (NFE)
Genomes Max Group AF
0.73427081 (NFE)
Exomes Max Group AF
0.73288668 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54171744G>A , CM000663.2:g.54171744G>A | GRCh38 |
| NC_000001.10:g.54637417G>A , CM000663.1:g.54637417G>A | GRCh37 |
| NC_000001.9:g.54410005G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534324.6:c.*2875C>T MANE Select | ENSP00000434343.1:n.*2875C>T | |
| ENST00000287899.13:c.*2875C>T | ENSP00000287899.8:n.*2875C>T | |
| ENST00000637610.1:c.303+12417C>T | ENSP00000490901.1:n.303+12417C>T | |
| ENST00000311841.7:c.*178+12417C>T | ENSP00000457656.1:n.*178+12417C>T | |
| ENST00000525949.1:n.92+859C>T | ||
| NM_001031672.4:c.*2875C>T MANE Select | NP_001026842.2:n.*2875C>T | |
| NM_001353353.2:c.*2875C>T | NP_001340282.1:n.*2875C>T | |
| NM_001353354.2:c.*2875C>T | NP_001340283.1:n.*2875C>T |