gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19097245 (SAS)
Genomes Max Group AF
0.19097245 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31315385C>T , CM000678.2:g.31315385C>T | GRCh38 |
| NC_000016.9:g.31326706C>T , CM000678.1:g.31326706C>T | GRCh37 |
| NC_000016.8:g.31234207C>T | NCBI36 |
| NG_011719.1:g.60419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544665.9:c.1708-5856C>T MANE Select | ENSP00000441691.3:n.1708-5856C>T | |
| ENST00000648685.1:c.1711-5856C>T | ENSP00000496959.1:n.1711-5856C>T | |
| ENST00000287497.12:c.1708-5856C>T | ENSP00000287497.8:n.1708-5856C>T | |
| ENST00000544665.7:c.1711-5856C>T | ENSP00000441691.2:n.1711-5856C>T | |
| ENST00000567031.1:c.454-9014C>T | ||
| NM_000632.3:c.1708-5856C>T | NP_000623.2:n.1708-5856C>T | |
| NM_001145808.1:c.1711-5856C>T | NP_001139280.1:n.1711-5856C>T | |
| XM_006721045.1:c.1708-5856C>T | XP_006721108.1:n.1708-5856C>T | |
| XM_011545850.1:c.1525-5856C>T | XP_011544152.1:n.1525-5856C>T | |
| XM_011545851.1:c.1711-5856C>T | XP_011544153.1:n.1711-5856C>T | |
| XR_950796.1:n.1801-5856C>T | ||
| XM_011545850.2:c.1525-5856C>T | XP_011544152.1:n.1525-5856C>T | |
| XM_011545851.2:c.1711-5856C>T | XP_011544153.1:n.1711-5856C>T | |
| XM_017023216.1:c.1711-5856C>T | XP_016878705.1:n.1711-5856C>T | |
| NM_000632.4:c.1708-5856C>T MANE Select | NP_000623.2:n.1708-5856C>T | |
| NM_001145808.2:c.1711-5856C>T | NP_001139280.1:n.1711-5856C>T |