gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25024231 (AFR)
Genomes Max Group AF
0.25024231 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206108533T>A , CM000663.2:g.206108533T>A | GRCh38 |
| NC_000001.10:g.206232798A>T , CM000663.1:g.206232798A>T | GRCh37 |
| NC_000001.9:g.204399421A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367126.5:c.*1656A>T MANE Select | ENSP00000356094.4:n.*1656A>T | |
| NM_000707.4:c.*1656A>T | NP_000698.1:n.*1656A>T | |
| NM_000707.5:c.*1656A>T MANE Select | NP_000698.1:n.*1656A>T |