ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020674 (NFE)
Genomes Max Group AF
0.00020676 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72616421C>T , CM000671.2:g.72616421C>T | GRCh38 |
| NC_000009.11:g.75231337C>T , CM000671.1:g.75231337C>T | GRCh37 |
| NC_000009.10:g.74421157C>T | NCBI36 |
| NG_008213.1:g.99621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-252C>T MANE Select | ENSP00000297784.6:n.-252C>T | |
| ENST00000643676.1:n.360C>T | ||
| ENST00000645053.1:c.-496C>T | ENSP00000493838.1:n.-496C>T | |
| ENST00000645208.2:c.-252C>T | ENSP00000494684.1:n.-252C>T | |
| ENST00000645773.1:c.-252C>T | ENSP00000493698.1:n.-252C>T | |
| ENST00000646244.1:n.267C>T | ||
| ENST00000650689.1:n.241C>T | ||
| ENST00000651183.1:c.-353C>T | ENSP00000498723.1:n.-353C>T | |
| ENST00000651743.1:n.291C>T | ||
| ENST00000297784.9:c.-252C>T | ENSP00000297784.5:n.-252C>T | |
| ENST00000340019.4:c.-252C>T | ENSP00000341433.3:n.-252C>T | |
| ENST00000497073.1:n.302C>T | ||
| NM_138691.2:c.-252C>T | NP_619636.2:n.-252C>T | |
| XM_011518213.1:c.415-8294C>T | XP_011516515.1:n.415-8294C>T | |
| XM_017014256.1:c.-38C>T | XP_016869745.1:n.-38C>T | |
| NM_138691.3:c.-252C>T MANE Select | NP_619636.2:n.-252C>T |