gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8689984 (EAS)
Genomes Max Group AF
0.8689984 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65950030C>T , CM000674.2:g.65950030C>T | GRCh38 |
| NC_000012.11:g.66343810C>T , CM000674.1:g.66343810C>T | GRCh37 |
| NC_000012.10:g.64630077C>T | NCBI36 |
| NG_016296.1:g.130571C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.250-1353C>T MANE Select | ENSP00000384026.2:n.250-1353C>T | |
| ENST00000393577.7:c.250-1353C>T | ENSP00000377205.3:n.250-1353C>T | |
| ENST00000403681.6:c.250-1353C>T | ENSP00000384026.2:n.250-1353C>T | |
| ENST00000539662.1:c.287-1353C>T | ENSP00000440919.1:n.287-1353C>T | |
| ENST00000541363.5:c.250-1353C>T | ENSP00000439317.1:n.250-1353C>T | |
| NM_001300918.1:c.250-1353C>T | NP_001287847.1:n.250-1353C>T | |
| NM_003483.4:c.250-1353C>T | NP_003474.1:n.250-1353C>T | |
| NM_003483.6:c.250-1353C>T MANE Select | NP_003474.1:n.250-1353C>T |