gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0032698 (SAS)
Genomes Max Group AF
0.00224361 (SAS)
Exomes Max Group AF
0.0032648 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128103C>T , CM000672.2:g.43128103C>T | GRCh38 |
| NC_000010.10:g.43623551C>T , CM000672.1:g.43623551C>T | GRCh37 |
| NC_000010.9:g.42943557C>T | NCBI36 |
| NG_007489.1:g.56035C>T , LRG_518:g.56035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*1349C>T | ENSP00000480088.2:n.*1349C>T | |
| ENST00000683007.1:n.4142C>T | ||
| ENST00000355710.8:c.3188-9C>T MANE Select | ENSP00000347942.3:n.3188-9C>T | |
| ENST00000355710.7:c.3188-9C>T | ENSP00000347942.3:n.3188-9C>T | |
| ENST00000615310.4:c.*537-9C>T | ENSP00000480088.1:n.*537-9C>T | |
| NM_020975.4:c.3188-9C>T , LRG_518t1:c.3188-9C>T | NP_066124.1:n.3188-9C>T | |
| XM_011540027.1:c.3188-9C>T | XP_011538329.1:n.3188-9C>T | |
| NM_020975.5:c.3188-9C>T | NP_066124.1:n.3188-9C>T | |
| NM_020975.6:c.3188-9C>T MANE Select | NP_066124.1:n.3188-9C>T |