dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002573 (SAS)
Exomes Max Group AF
0.00001128 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20575915C>T , CM000686.2:g.20575915C>T | GRCh38 |
| NC_000024.9:g.22737801C>T , CM000686.1:g.22737801C>T | GRCh37 |
| NC_000024.8:g.21147189C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361365.7:c.16+28C>T MANE Select | ENSP00000354722.2:n.16+28C>T | |
| ENST00000361365.6:c.16+28C>T | ENSP00000354722.2:n.16+28C>T | |
| ENST00000382772.3:c.16+28C>T | ENSP00000372222.3:n.16+28C>T | |
| ENST00000465253.1:n.110+28C>T | ||
| NM_001278612.1:c.16+28C>T | NP_001265541.1:n.16+28C>T | |
| NM_004681.3:c.16+28C>T | NP_004672.2:n.16+28C>T | |
| NM_004681.4:c.16+28C>T MANE Select | NP_004672.2:n.16+28C>T | |
| NM_001278612.2:c.16+28C>T | NP_001265541.1:n.16+28C>T |