gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000502 (NFE)
Exomes Max Group AF
0.00000456 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768317G>A , CM000663.2:g.115768317G>A | GRCh38 |
| NC_000001.10:g.116310938G>A , CM000663.1:g.116310938G>A | GRCh37 |
| NC_000001.9:g.116112461G>A | NCBI36 |
| NG_008802.1:g.5489C>T , LRG_404:g.5489C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-52C>T | ENSP00000518226.1:n.-52C>T | |
| ENST00000261448.6:c.225C>T MANE Select | ENSP00000261448.5:p.Ile75= | |
| ENST00000261448.5:c.225C>T | ENSP00000261448.5:p.Ile75= | |
| NM_001232.3:c.225C>T , LRG_404t1:c.225C>T | NP_001223.2:p.Ile75= | |
| NM_001232.4:c.225C>T MANE Select | NP_001223.2:p.Ile75= |