gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49662403 (SAS)
Genomes Max Group AF
0.49662403 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67058689C>T , CM000673.2:g.67058689C>T | GRCh38 |
| NC_000011.9:g.66826160C>T , CM000673.1:g.66826160C>T | GRCh37 |
| NC_000011.8:g.66582736C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308831.7:c.132+1655C>T MANE Select | ENSP00000308576.2:n.132+1655C>T | |
| ENST00000308831.6:c.132+1655C>T | ENSP00000308576.2:n.132+1655C>T | |
| ENST00000532559.1:c.132+1655C>T | ENSP00000432003.1:n.132+1655C>T | |
| ENST00000533360.2:n.175+1655C>T | ||
| NM_001300886.1:c.132+1655C>T | NP_001287815.1:n.132+1655C>T | |
| NM_014578.3:c.132+1655C>T | NP_055393.1:n.132+1655C>T | |
| NM_014578.4:c.132+1655C>T MANE Select | NP_055393.1:n.132+1655C>T | |
| NM_001300886.2:c.132+1655C>T | NP_001287815.1:n.132+1655C>T |