gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4325948 (SAS)
Genomes Max Group AF
0.4325948 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86356722G>A , CM000672.2:g.86356722G>A | GRCh38 |
| NC_000010.10:g.88116479G>A , CM000672.1:g.88116479G>A | GRCh37 |
| NC_000010.9:g.88106459G>A | NCBI36 |
| NG_011875.1:g.14772C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327946.12:c.235+7219C>T MANE Select | ENSP00000330148.7:n.235+7219C>T | |
| ENST00000327946.11:c.235+7219C>T | ENSP00000330148.7:n.235+7219C>T | |
| ENST00000464741.2:c.235+7219C>T | ENSP00000433064.1:n.235+7219C>T | |
| NM_017551.2:c.235+7219C>T | NP_060021.1:n.235+7219C>T | |
| XM_011539720.1:c.235+7219C>T | XP_011538022.1:n.235+7219C>T | |
| XM_011539720.2:c.235+7219C>T | XP_011538022.1:n.235+7219C>T | |
| NM_017551.3:c.235+7219C>T MANE Select | NP_060021.1:n.235+7219C>T |