gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72558079 (SAS)
Genomes Max Group AF
0.72558079 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71223228G>T , CM000672.2:g.71223228G>T | GRCh38 |
| NC_000010.10:g.72982985G>T , CM000672.1:g.72982985G>T | GRCh37 |
| NC_000010.9:g.72652991G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335350.10:c.79+10164G>T MANE Select | ENSP00000334329.6:n.79+10164G>T | |
| ENST00000373192.4:c.79+10164G>T | ENSP00000362288.4:n.79+10164G>T | |
| NM_001244889.1:c.79+10164G>T | NP_001231818.1:n.79+10164G>T | |
| NM_170744.4:c.79+10164G>T | NP_734465.2:n.79+10164G>T | |
| XR_945617.1:n.530+10164G>T | ||
| XR_002956966.1:n.530+10164G>T | ||
| NM_170744.5:c.79+10164G>T MANE Select | NP_734465.2:n.79+10164G>T | |
| NM_001244889.2:c.79+10164G>T | NP_001231818.1:n.79+10164G>T |