gnomAD v4:
Joint Max Group AF
0.00000385 (SAS)
Exomes Max Group AF
0.00000407 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186039648G>T , CM000663.2:g.186039648G>T | GRCh38 |
| NC_000001.10:g.186008780G>T , CM000663.1:g.186008780G>T | GRCh37 |
| NC_000001.9:g.184275403G>T | NCBI36 |
| NG_011841.1:g.310098G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.6029-80G>T MANE Select | ENSP00000271588.4:n.6029-80G>T | |
| ENST00000271588.8:c.6029-80G>T | ENSP00000271588.4:n.6029-80G>T | |
| NM_031935.2:c.6029-80G>T | NP_114141.2:n.6029-80G>T | |
| XM_011510037.1:c.6029-80G>T | XP_011508339.1:n.6029-80G>T | |
| XM_011510038.1:c.6029-80G>T | XP_011508340.1:n.6029-80G>T | |
| XM_011510039.1:c.6029-80G>T | XP_011508341.1:n.6029-80G>T | |
| XM_011510040.1:c.6029-80G>T | XP_011508342.1:n.6029-80G>T | |
| XM_011510041.1:c.6029-80G>T | XP_011508343.1:n.6029-80G>T | |
| XM_011510038.3:c.6029-80G>T | XP_011508340.1:n.6029-80G>T | |
| XM_011510041.3:c.6029-80G>T | XP_011508343.1:n.6029-80G>T | |
| XM_017002437.1:c.4052-80G>T | XP_016857926.1:n.4052-80G>T | |
| XM_024450118.1:c.6029-80G>T | XP_024305886.1:n.6029-80G>T | |
| NM_031935.3:c.6029-80G>T MANE Select | NP_114141.2:n.6029-80G>T |