gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83263968 (SAS)
Genomes Max Group AF
0.83263968 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32914591C>T , CM000671.2:g.32914591C>T | GRCh38 |
| NC_000009.11:g.32914589C>T , CM000671.1:g.32914589C>T | GRCh37 |
| NC_000009.10:g.32904589C>T | NCBI36 |
| NG_012821.2:g.115541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672846.1:c.*1055+10306G>A | ENSP00000500396.1:n.*1055+10306G>A | |
| XM_017014831.1:c.1042+10306G>A | XP_016870320.1:n.1042+10306G>A | |
| XM_017014832.1:c.1042+10306G>A | XP_016870321.1:n.1042+10306G>A |