gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62627706 (SAS)
Genomes Max Group AF
0.62627706 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103273258C>T , CM000672.2:g.103273258C>T | GRCh38 |
| NC_000010.10:g.105033015C>T , CM000672.1:g.105033015C>T | GRCh37 |
| NC_000010.9:g.105023005C>T | NCBI36 |
| NG_012318.1:g.1096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674696.1:c.-25+2958G>A | ENSP00000502679.1:n.-25+2958G>A | |
| ENST00000675164.1:c.-123+2958G>A | ENSP00000502128.1:n.-123+2958G>A | |
| ENST00000675326.1:c.-169+3896G>A | ENSP00000502205.1:n.-169+3896G>A | |
| ENST00000676428.1:c.-118+3896G>A | ENSP00000501689.1:n.-118+3896G>A | |
| ENST00000676449.1:c.-25+3896G>A | ENSP00000502801.1:n.-25+3896G>A |