gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28115349 (SAS)
Genomes Max Group AF
0.28115349 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6934946C>T , CM000686.2:g.6934946C>T | GRCh38 |
| NC_000024.9:g.6802987C>T , CM000686.1:g.6802987C>T | GRCh37 |
| NC_000024.8:g.6862987C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383032.6:c.-266+22774C>T MANE Select | ENSP00000372499.1:n.-266+22774C>T | |
| ENST00000346432.3:c.-171+22774C>T | ENSP00000328879.4:n.-171+22774C>T | |
| ENST00000355162.6:c.-235+22774C>T | ENSP00000347289.2:n.-235+22774C>T | |
| ENST00000383032.5:c.-266+22774C>T | ENSP00000372499.1:n.-266+22774C>T | |
| NM_033284.1:c.-266+22774C>T | NP_150600.1:n.-266+22774C>T | |
| NM_134258.1:c.-235+22774C>T | NP_599020.1:n.-235+22774C>T | |
| NM_134259.1:c.-171+22774C>T | NP_599021.1:n.-171+22774C>T | |
| XM_017030086.1:c.-266+22774C>T | XP_016885575.1:n.-266+22774C>T | |
| XM_017030087.1:c.-266+22774C>T | XP_016885576.1:n.-266+22774C>T | |
| XM_024452497.1:c.-266+22774C>T | XP_024308265.1:n.-266+22774C>T | |
| NM_033284.2:c.-266+22774C>T MANE Select | NP_150600.1:n.-266+22774C>T | |
| NM_134258.2:c.-235+22774C>T | NP_599020.1:n.-235+22774C>T | |
| NM_134259.2:c.-171+22774C>T | NP_599021.1:n.-171+22774C>T |