gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15590929 (SAS)
Genomes Max Group AF
0.15590929 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132444356G>T , CM000665.2:g.132444356G>T | GRCh38 |
| NC_000003.11:g.132163200G>T , CM000665.1:g.132163200G>T | GRCh37 |
| NC_000003.10:g.133645890G>T | NCBI36 |
| NG_051045.1:g.31830G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260818.11:c.69-2119G>T MANE Select | ENSP00000260818.6:n.69-2119G>T | |
| ENST00000650455.1:c.69-2119G>T | ENSP00000496825.1:n.69-2119G>T | |
| ENST00000260818.10:c.69-2119G>T | ENSP00000260818.6:n.69-2119G>T | |
| ENST00000486798.5:n.134-2119G>T | ||
| NM_015268.3:c.69-2119G>T | NP_056083.3:n.69-2119G>T | |
| XM_005247245.3:c.69-2119G>T | XP_005247302.1:n.69-2119G>T | |
| NM_001329126.1:c.69-2119G>T | NP_001316055.1:n.69-2119G>T | |
| NM_015268.4:c.69-2119G>T MANE Select | NP_056083.3:n.69-2119G>T | |
| NM_001329126.2:c.69-2119G>T | NP_001316055.1:n.69-2119G>T |