gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87086479 (EAS)
Genomes Max Group AF
0.87086479 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31036758C>T , CM000678.2:g.31036758C>T | GRCh38 |
| NC_000016.9:g.31048079C>T , CM000678.1:g.31048079C>T | GRCh37 |
| NC_000016.8:g.30955580C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313843.8:c.379-1168C>T MANE Select | ENSP00000317714.3:n.379-1168C>T | |
| ENST00000566353.6:n.786-1168C>T | ||
| ENST00000313843.7:c.379-1168C>T | ENSP00000317714.3:n.379-1168C>T | |
| ENST00000394998.5:c.373-1168C>T | ENSP00000378447.1:n.373-1168C>T | |
| ENST00000460668.5:c.*206-1168C>T | ENSP00000454419.1:n.*206-1168C>T | |
| ENST00000487411.5:n.775-1168C>T | ||
| ENST00000493902.5:n.839+997C>T | ||
| ENST00000496977.5:c.*206-1168C>T | ENSP00000454841.1:n.*206-1168C>T | |
| NM_001272095.1:c.145-1168C>T | NP_001259024.1:n.145-1168C>T | |
| NM_001272096.1:c.373-1168C>T | NP_001259025.1:n.373-1168C>T | |
| NM_004604.4:c.379-1168C>T | NP_004595.2:n.379-1168C>T | |
| XM_005255521.1:c.367-1168C>T | XP_005255578.1:n.367-1168C>T | |
| XM_011545925.1:c.-52+997C>T | XP_011544227.1:n.-52+997C>T | |
| XR_002957836.1:n.649-1168C>T | ||
| XR_002957837.1:n.611-1168C>T | ||
| XR_002957838.1:n.262+997C>T | ||
| NM_004604.5:c.379-1168C>T MANE Select | NP_004595.2:n.379-1168C>T |