gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09550422 (SAS)
Genomes Max Group AF
0.09550422 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33677367C>T , CM000681.2:g.33677367C>T | GRCh38 |
| NC_000019.9:g.34168273C>T , CM000681.1:g.34168273C>T | GRCh37 |
| NC_000019.8:g.38860113C>T | NCBI36 |
| NG_029857.1:g.60413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650847.1:c.-87+9524C>T MANE Select | ENSP00000499084.1:n.-87+9524C>T | |
| ENST00000434302.5:c.-87+9524C>T | ENSP00000392604.1:n.-87+9524C>T | |
| ENST00000438847.7:c.-86-11809C>T | ENSP00000393879.1:n.-86-11809C>T | |
| ENST00000591231.5:c.-87+9524C>T | ENSP00000467012.1:n.-87+9524C>T | |
| ENST00000604556.1:n.314-11809C>T | ||
| NM_001127895.1:c.-87+9524C>T | NP_001121367.1:n.-87+9524C>T | |
| NM_001127896.1:c.-86-11809C>T | NP_001121368.1:n.-86-11809C>T | |
| NM_001127895.2:c.-87+9524C>T MANE Select | NP_001121367.1:n.-87+9524C>T | |
| NM_001127896.2:c.-86-11809C>T | NP_001121368.1:n.-86-11809C>T |