gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14337605 (EAS)
Genomes Max Group AF
0.14337605 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115669142T>C , CM000663.2:g.115669142T>C | GRCh38 |
| NC_000001.10:g.116211763T>C , CM000663.1:g.116211763T>C | GRCh37 |
| NC_000001.9:g.116013286T>C | NCBI36 |
| NG_016548.1:g.32190T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355485.7:c.812+4874T>C MANE Select | ENSP00000347672.2:n.812+4874T>C | |
| ENST00000310260.7:c.812+4874T>C | ENSP00000310800.3:n.812+4874T>C | |
| ENST00000355485.6:c.812+4874T>C | ENSP00000347672.2:n.812+4874T>C | |
| ENST00000369509.1:c.812+4874T>C | ENSP00000358522.1:n.812+4874T>C | |
| ENST00000369510.8:c.806+4874T>C | ENSP00000358523.3:n.806+4874T>C | |
| NM_001172411.1:c.806+4874T>C | NP_001165882.1:n.806+4874T>C | |
| NM_001172412.1:c.812+4874T>C | NP_001165883.1:n.812+4874T>C | |
| NM_138959.2:c.812+4874T>C | NP_620409.1:n.812+4874T>C | |
| NM_138959.3:c.812+4874T>C MANE Select | NP_620409.1:n.812+4874T>C | |
| NM_001172411.2:c.806+4874T>C | NP_001165882.1:n.806+4874T>C | |
| NM_001172412.2:c.812+4874T>C | NP_001165883.1:n.812+4874T>C |