gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31554622 (SAS)
Genomes Max Group AF
0.31554622 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94763326T>C , CM000672.2:g.94763326T>C | GRCh38 |
| NC_000010.10:g.96523083T>C , CM000672.1:g.96523083T>C | GRCh37 |
| NC_000010.9:g.96513073T>C | NCBI36 |
| NG_008384.2:g.5621T>C | |
| NG_008384.3:g.5646T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.168+453T>C MANE Select | ENSP00000360372.3:n.168+453T>C | |
| ENST00000371321.7:c.168+453T>C | ENSP00000360372.3:n.168+453T>C | |
| ENST00000464755.1:c.932-11732T>C | ENSP00000483243.1:n.932-11732T>C | |
| ENST00000480405.2:c.168+453T>C | ENSP00000483847.1:n.168+453T>C | |
| NM_000769.2:c.168+453T>C | NP_000760.1:n.168+453T>C | |
| NM_000769.4:c.168+453T>C MANE Select | NP_000760.1:n.168+453T>C |