gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96964437 (EAS)
Genomes Max Group AF
0.96964437 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60855305T>C , CM000677.2:g.60855305T>C | GRCh38 |
| NC_000015.9:g.61147504T>C , CM000677.1:g.61147504T>C | GRCh37 |
| NC_000015.8:g.58934796T>C | NCBI36 |
| NG_029246.1:g.378999A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.167-176619A>G MANE Select | ENSP00000335087.6:n.167-176619A>G | |
| ENST00000335670.10:c.167-176619A>G | ENSP00000335087.6:n.167-176619A>G | |
| ENST00000551975.5:c.82-176619A>G | ||
| ENST00000557822.5:n.192-176619A>G | ||
| ENST00000559145.1:n.174-176619A>G | ||
| ENST00000561093.1:n.180-176619A>G | ||
| NM_134261.2:c.167-176619A>G | NP_599023.1:n.167-176619A>G | |
| XM_011521876.1:c.34+160493A>G | XP_011520178.1:n.34+160493A>G | |
| XM_011521878.1:c.-327-176619A>G | XP_011520180.1:n.-327-176619A>G | |
| XM_011521878.2:c.-327-176619A>G | XP_011520180.1:n.-327-176619A>G | |
| NM_134261.3:c.167-176619A>G MANE Select | NP_599023.1:n.167-176619A>G |