gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51971024 (SAS)
Genomes Max Group AF
0.51971024 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15886754G>A , CM000681.2:g.15886754G>A | GRCh38 |
| NC_000019.9:g.15997564G>A , CM000681.1:g.15997564G>A | GRCh37 |
| NC_000019.8:g.15858564G>A | NCBI36 |
| NG_007971.2:g.16321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.919-446C>T MANE Select | ENSP00000221700.3:n.919-446C>T | |
| ENST00000011989.11:c.919-446C>T | ENSP00000011989.8:n.919-446C>T | |
| ENST00000221700.10:c.919-446C>T | ENSP00000221700.3:n.919-446C>T | |
| ENST00000392846.7:n.862-446C>T | ||
| ENST00000587671.2:c.*504-701C>T | ENSP00000467443.2:n.*504-701C>T | |
| NM_001082.4:c.919-446C>T | NP_001073.3:n.919-446C>T | |
| NM_001082.5:c.919-446C>T MANE Select | NP_001073.3:n.919-446C>T |