gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00609899 (MID)
Genomes Max Group AF
0.0044525 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32638107C>T , CM000668.2:g.32638107C>T | GRCh38 |
| NC_000006.11:g.32605884C>T , CM000668.1:g.32605884C>T | GRCh37 |
| NC_000006.10:g.32713862C>T | NCBI36 |
| NG_032876.1:g.5702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343139.11:c.82+567C>T MANE Select | ENSP00000339398.5:n.82+567C>T | |
| ENST00000343139.9:c.82+567C>T | ENSP00000339398.5:n.82+567C>T | |
| ENST00000374949.2:c.82+567C>T | ENSP00000364087.2:n.82+567C>T | |
| ENST00000395363.5:c.82+567C>T | ENSP00000378767.1:n.82+567C>T | |
| ENST00000460633.1:n.110+567C>T | ||
| ENST00000482745.5:c.82+567C>T | ENSP00000436546.1:n.82+567C>T | |
| ENST00000496318.5:c.82+567C>T | ENSP00000437302.1:n.82+567C>T | |
| NM_002122.3:c.82+567C>T | NP_002113.2:n.82+567C>T | |
| XM_006715079.2:c.82+567C>T | XP_006715142.1:n.82+567C>T | |
| XM_006715079.4:c.82+567C>T | XP_006715142.1:n.82+567C>T | |
| XR_001744085.1:n.2461G>A | ||
| NM_002122.5:c.82+567C>T MANE Select | NP_002113.2:n.82+567C>T |