gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000653 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.185734752G>T , CM000663.2:g.185734752G>T | GRCh38 |
| NC_000001.10:g.185703884G>T , CM000663.1:g.185703884G>T | GRCh37 |
| NC_000001.9:g.183970507G>T | NCBI36 |
| NG_011841.1:g.5202G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.-28G>T MANE Select | ENSP00000271588.4:n.-28G>T | |
| ENST00000271588.8:c.-28G>T | ENSP00000271588.4:n.-28G>T | |
| NM_031935.2:c.-28G>T | NP_114141.2:n.-28G>T | |
| XM_011510037.1:c.-28G>T | XP_011508339.1:n.-28G>T | |
| XM_011510038.1:c.-28G>T | XP_011508340.1:n.-28G>T | |
| XM_011510039.1:c.-28G>T | XP_011508341.1:n.-28G>T | |
| XM_011510040.1:c.-28G>T | XP_011508342.1:n.-28G>T | |
| XM_011510041.1:c.-28G>T | XP_011508343.1:n.-28G>T | |
| XM_011510038.3:c.-28G>T | XP_011508340.1:n.-28G>T | |
| XM_011510041.3:c.-28G>T | XP_011508343.1:n.-28G>T | |
| XM_024450118.1:c.-28G>T | XP_024305886.1:n.-28G>T | |
| NM_031935.3:c.-28G>T MANE Select | NP_114141.2:n.-28G>T |