gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001749 (AFR)
Genomes Max Group AF
0.00004743 (AFR)
Exomes Max Group AF
0.00028706 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837395A>T , CM000672.2:g.102837395A>T | GRCh38 |
| NC_000010.10:g.104597152A>T , CM000672.1:g.104597152A>T | GRCh37 |
| NC_000010.9:g.104587142A>T | NCBI36 |
| NG_007955.1:g.5139T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.-34T>A MANE Select | ENSP00000358903.3:n.-34T>A | |
| ENST00000638190.1:c.-34T>A | ENSP00000492539.1:n.-34T>A | |
| ENST00000638272.1:c.-34T>A | ENSP00000491508.1:n.-34T>A | |
| ENST00000638971.1:c.-34T>A | ENSP00000492313.1:n.-34T>A | |
| ENST00000639393.1:c.-34T>A | ENSP00000492651.1:n.-34T>A | |
| ENST00000369887.3:c.-34T>A | ENSP00000358903.3:n.-34T>A | |
| ENST00000489268.1:n.20T>A | ||
| NM_000102.3:c.-34T>A | NP_000093.1:n.-34T>A | |
| NM_000102.4:c.-34T>A MANE Select | NP_000093.1:n.-34T>A |