gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76037928 (AFR)
Genomes Max Group AF
0.76037928 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142133639A>T , CM000667.2:g.142133639A>T | GRCh38 |
| NC_000005.9:g.141513204A>T , CM000667.1:g.141513204A>T | GRCh37 |
| NC_000005.8:g.141493388A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253814.6:c.282+1297A>T MANE Select | ENSP00000253814.3:n.282+1297A>T | |
| ENST00000253814.5:c.282+1297A>T | ENSP00000253814.3:n.282+1297A>T | |
| ENST00000509436.1:n.550-395A>T | ||
| NM_030571.3:c.282+1297A>T | NP_085048.1:n.282+1297A>T | |
| NM_030571.4:c.282+1297A>T MANE Select | NP_085048.1:n.282+1297A>T |