ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001807 (NFE)
Exomes Max Group AF
0.00001833 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31100961C>T , CM000670.2:g.31100961C>T | GRCh38 |
| NC_000008.10:g.30958477C>T , CM000670.1:g.30958477C>T | GRCh37 |
| NC_000008.9:g.31078019C>T | NCBI36 |
| NG_008870.1:g.72700C>T , LRG_524:g.72700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.2088+6C>T MANE Select | ENSP00000298139.5:n.2088+6C>T | |
| ENST00000650667.1:c.*1702+6C>T | ENSP00000498593.1:n.*1702+6C>T | |
| ENST00000298139.5:c.2088+6C>T | ENSP00000298139.5:n.2088+6C>T | |
| ENST00000521620.5:n.721+6C>T | ||
| NM_000553.4:c.2088+6C>T , LRG_524t1:c.2088+6C>T | NP_000544.2:n.2088+6C>T | |
| XM_011544639.1:c.2007+6C>T | XP_011542941.1:n.2007+6C>T | |
| XM_011544640.1:c.489+6C>T | XP_011542942.1:n.489+6C>T | |
| XR_949470.1:n.2361+6C>T | ||
| XR_949471.1:n.2361+6C>T | ||
| XR_949472.1:n.2361+6C>T | ||
| NM_000553.5:c.2088+6C>T | NP_000544.2:n.2088+6C>T | |
| XM_011544639.3:c.2007+6C>T | XP_011542941.1:n.2007+6C>T | |
| XM_024447265.1:c.1878+6C>T | XP_024303033.1:n.1878+6C>T | |
| XR_949470.3:n.2389+6C>T | ||
| XR_949471.3:n.2389+6C>T | ||
| XR_949472.3:n.2389+6C>T | ||
| NM_000553.6:c.2088+6C>T MANE Select | NP_000544.2:n.2088+6C>T |