gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6356013 (AMR)
Genomes Max Group AF
0.6356013 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.133945710C>T , CM000669.2:g.133945710C>T | GRCh38 |
| NC_000007.13:g.133630463C>T , CM000669.1:g.133630463C>T | GRCh37 |
| NC_000007.12:g.133281003C>T | NCBI36 |
| NG_047176.1:g.697644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253861.5:c.2206+7641C>T MANE Select | ENSP00000253861.4:n.2206+7641C>T | |
| ENST00000253861.4:c.2206+7641C>T | ENSP00000253861.4:n.2206+7641C>T | |
| ENST00000478265.1:n.452+7641C>T | ||
| NM_021807.3:c.2206+7641C>T | NP_068579.3:n.2206+7641C>T | |
| XM_017012494.2:c.1036+7641C>T | XP_016867983.1:n.1036+7641C>T | |
| XR_001744845.2:n.2233+7641C>T | ||
| NM_021807.4:c.2206+7641C>T MANE Select | NP_068579.3:n.2206+7641C>T |