gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34994002 (NFE)
Genomes Max Group AF
0.34994002 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50217394C>T , CM000677.2:g.50217394C>T | GRCh38 |
| NC_000015.9:g.50509591C>T , CM000677.1:g.50509591C>T | GRCh37 |
| NC_000015.8:g.48296883C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267842.10:c.973-5571C>T MANE Select | ENSP00000267842.5:n.973-5571C>T | |
| ENST00000267842.9:c.973-5571C>T | ENSP00000267842.5:n.973-5571C>T | |
| ENST00000380902.8:c.814-5571C>T | ENSP00000370289.4:n.814-5571C>T | |
| ENST00000544960.1:c.268-5571C>T | ENSP00000444549.1:n.268-5571C>T | |
| ENST00000559938.1:n.12-5571C>T | ||
| NM_001159629.1:c.814-5571C>T | NP_001153101.1:n.814-5571C>T | |
| NM_003645.3:c.973-5571C>T | NP_003636.2:n.973-5571C>T | |
| NM_003645.4:c.973-5571C>T MANE Select | NP_003636.2:n.973-5571C>T | |
| NM_001159629.2:c.814-5571C>T | NP_001153101.1:n.814-5571C>T |