gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22881873 (AFR)
Genomes Max Group AF
0.22881873 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150339575T>G , CM000669.2:g.150339575T>G | GRCh38 |
| NC_000007.13:g.150036664T>G , CM000669.1:g.150036664T>G | GRCh37 |
| NC_000007.12:g.149667597T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223271.8:c.280-494A>C MANE Select | ENSP00000223271.3:n.280-494A>C | |
| ENST00000223271.7:c.280-494A>C | ENSP00000223271.3:n.280-494A>C | |
| ENST00000466675.5:c.280-494A>C | ENSP00000418009.1:n.280-494A>C | |
| ENST00000467793.5:c.280-494A>C | ENSP00000417669.1:n.280-494A>C | |
| ENST00000478771.2:n.1562-494A>C | ||
| ENST00000482669.1:c.280-494A>C | ENSP00000418483.1:n.280-494A>C | |
| NM_002889.3:c.280-494A>C | NP_002880.1:n.280-494A>C | |
| XM_017012491.1:c.280-494A>C | XP_016867980.1:n.280-494A>C | |
| NM_002889.4:c.280-494A>C MANE Select | NP_002880.1:n.280-494A>C |