gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30277438 (AMR)
Genomes Max Group AF
0.26953294 (AMR)
Exomes Max Group AF
0.31835263 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66456949C>T , CM000670.2:g.66456949C>T | GRCh38 |
| NC_000008.10:g.67369184C>T , CM000670.1:g.67369184C>T | GRCh37 |
| NC_000008.9:g.67531738C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396623.8:c.1065+54C>T MANE Select | ENSP00000379865.3:n.1065+54C>T | |
| ENST00000648156.1:c.*284+54C>T | ENSP00000497007.1:n.*284+54C>T | |
| ENST00000276576.11:c.*901+54C>T | ENSP00000276576.7:n.*901+54C>T | |
| ENST00000396623.7:c.1065+54C>T | ENSP00000379865.3:n.1065+54C>T | |
| ENST00000415254.5:c.921+54C>T | ENSP00000407115.1:n.921+54C>T | |
| ENST00000419955.5:c.*1074+54C>T | ENSP00000392040.1:n.*1074+54C>T | |
| ENST00000424777.6:c.*502+54C>T | ENSP00000410883.2:n.*502+54C>T | |
| ENST00000426810.5:c.*1250+54C>T | ENSP00000406905.1:n.*1250+54C>T | |
| ENST00000480040.5:n.140+54C>T | ||
| ENST00000496501.5:n.939+54C>T | ||
| NM_144650.2:c.1065+54C>T | NP_653251.2:n.1065+54C>T | |
| NM_144650.3:c.1065+54C>T MANE Select | NP_653251.2:n.1065+54C>T |