gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31636955 (EAS)
Genomes Max Group AF
0.31636955 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81109110T>C , CM000676.2:g.81109110T>C | GRCh38 |
| NC_000014.8:g.81575454T>C , CM000676.1:g.81575454T>C | GRCh37 |
| NC_000014.7:g.80645207T>C | NCBI36 |
| NG_009206.1:g.158586T>C , LRG_523:g.158586T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.692+658T>C MANE Select | ENSP00000298171.2:n.692+658T>C | |
| ENST00000636454.1:n.610+658T>C | ||
| ENST00000298171.6:c.692+658T>C | ENSP00000298171.2:n.692+658T>C | |
| ENST00000541158.6:c.692+658T>C | ENSP00000441235.2:n.692+658T>C | |
| NM_000369.2:c.692+658T>C , LRG_523t1:c.692+658T>C | NP_000360.2:n.692+658T>C | |
| XM_005268037.3:c.692+658T>C | XP_005268094.1:n.692+658T>C | |
| XM_011537119.1:c.413+658T>C | XP_011535421.1:n.413+658T>C | |
| XR_245790.3:n.2087-9584A>G | ||
| XR_429385.2:n.854-1930A>G | ||
| XR_429386.2:n.855-1972A>G | ||
| XR_944075.1:n.866-9584A>G | ||
| XR_944076.1:n.862-9584A>G | ||
| XR_944077.1:n.866-9584A>G | ||
| XR_944078.1:n.866-9584A>G | ||
| XR_944079.1:n.856-1930A>G | ||
| XM_005268037.4:c.692+658T>C | XP_005268094.1:n.692+658T>C | |
| XM_011537119.2:c.413+658T>C | XP_011535421.1:n.413+658T>C | |
| XR_001751021.1:n.2754-9584A>G | ||
| XR_001751022.1:n.2754-9584A>G | ||
| XR_001751023.1:n.2754-9584A>G | ||
| XR_944075.3:n.930-9584A>G | ||
| NM_000369.4:c.692+658T>C | NP_000360.2:n.692+658T>C | |
| NM_000369.5:c.692+658T>C MANE Select | NP_000360.2:n.692+658T>C |