gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013381 (MID)
Genomes Max Group AF
0.00000807 (AFR)
Exomes Max Group AF
0.00014143 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99859485C>T , CM000670.2:g.99859485C>T | GRCh38 |
| NC_000008.10:g.100871713C>T , CM000670.1:g.100871713C>T | GRCh37 |
| NC_000008.9:g.100940889C>T | NCBI36 |
| NG_007098.2:g.851220C>T , LRG_351:g.851220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*213+5C>T | ENSP00000507923.1:n.*213+5C>T | |
| ENST00000682358.1:n.11189+5C>T | ||
| ENST00000683334.1:c.*6801+5C>T | ENSP00000507369.1:n.*6801+5C>T | |
| ENST00000357162.7:c.11044+5C>T MANE Select | ENSP00000349685.2:n.11044+5C>T | |
| ENST00000358544.7:c.11119+5C>T MANE Plus Clinical | ENSP00000351346.2:n.11119+5C>T | |
| ENST00000357162.6:c.11044+5C>T | ENSP00000349685.2:n.11044+5C>T | |
| ENST00000358544.6:c.11119+5C>T | ENSP00000351346.2:n.11119+5C>T | |
| NM_017890.4:c.11119+5C>T , LRG_351t1:c.11119+5C>T | NP_060360.3:n.11119+5C>T | |
| NM_152564.4:c.11044+5C>T , LRG_351t2:c.11044+5C>T | NP_689777.3:n.11044+5C>T | |
| XM_005250800.2:c.11119+5C>T | XP_005250857.1:n.11119+5C>T | |
| XM_005250801.3:c.11119+5C>T | XP_005250858.1:n.11119+5C>T | |
| XM_011516848.1:c.11116+5C>T | XP_011515150.1:n.11116+5C>T | |
| XM_011516849.1:c.11041+5C>T | XP_011515151.1:n.11041+5C>T | |
| XM_011516850.1:c.10741+5C>T | XP_011515152.1:n.10741+5C>T | |
| XM_011516851.1:c.8005+5C>T | XP_011515153.1:n.8005+5C>T | |
| XM_011516852.1:c.8005+5C>T | XP_011515154.1:n.8005+5C>T | |
| XM_011516854.1:c.6898+5C>T | XP_011515156.1:n.6898+5C>T | |
| XM_005250800.3:c.11119+5C>T | XP_005250857.1:n.11119+5C>T | |
| XM_005250801.5:c.11119+5C>T | XP_005250858.1:n.11119+5C>T | |
| XM_011516848.2:c.11116+5C>T | XP_011515150.1:n.11116+5C>T | |
| XM_011516849.2:c.11041+5C>T | XP_011515151.1:n.11041+5C>T | |
| XM_011516850.2:c.10741+5C>T | XP_011515152.1:n.10741+5C>T | |
| XM_011516851.2:c.8005+5C>T | XP_011515153.1:n.8005+5C>T | |
| XM_011516852.2:c.8005+5C>T | XP_011515154.1:n.8005+5C>T | |
| XM_011516854.2:c.6898+5C>T | XP_011515156.1:n.6898+5C>T | |
| XM_017013109.1:c.10924+5C>T | XP_016868598.1:n.10924+5C>T | |
| XM_017013111.1:c.8005+5C>T | XP_016868600.1:n.8005+5C>T | |
| XM_017013112.1:c.6676+5C>T | XP_016868601.1:n.6676+5C>T | |
| XM_024447074.1:c.9904+5C>T | XP_024302842.1:n.9904+5C>T | |
| NM_017890.5:c.11119+5C>T MANE Plus Clinical | NP_060360.3:n.11119+5C>T | |
| NM_152564.5:c.11044+5C>T MANE Select | NP_689777.3:n.11044+5C>T |