gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39437666 (SAS)
Genomes Max Group AF
0.39437666 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42418584A>C , CM000679.2:g.42418584A>C | GRCh38 |
| NC_000017.10:g.40570602A>C , CM000679.1:g.40570602A>C | GRCh37 |
| NC_000017.9:g.37824128A>C | NCBI36 |
| NG_015845.1:g.9737T>G | |
| NG_015845.2:g.9737T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.471+4043T>G MANE Select | ENSP00000349541.4:n.471+4043T>G | |
| ENST00000357037.5:c.471+4043T>G | ENSP00000349541.4:n.471+4043T>G | |
| NM_012232.5:c.471+4043T>G | NP_036364.2:n.471+4043T>G | |
| XM_005257242.2:c.471+4043T>G | XP_005257299.1:n.471+4043T>G | |
| XM_005257242.4:c.471+4043T>G | XP_005257299.1:n.471+4043T>G | |
| NM_012232.6:c.471+4043T>G MANE Select | NP_036364.2:n.471+4043T>G |