gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75231518 (AFR)
Genomes Max Group AF
0.75231518 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46103850T>A , CM000666.2:g.46103850T>A | GRCh38 |
| NC_000004.11:g.46105867T>A , CM000666.1:g.46105867T>A | GRCh37 |
| NC_000004.10:g.45800624T>A | NCBI36 |
| NG_046964.1:g.25216A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.105-6501A>T MANE Select | ENSP00000295452.4:n.105-6501A>T | |
| ENST00000295452.4:c.105-6501A>T | ENSP00000295452.4:n.105-6501A>T | |
| NM_173536.3:c.105-6501A>T | NP_775807.2:n.105-6501A>T | |
| NM_173536.4:c.105-6501A>T MANE Select | NP_775807.2:n.105-6501A>T |