gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01396894 (AFR)
Genomes Max Group AF
0.01316259 (AFR)
Exomes Max Group AF
0.01353023 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12757146C>T , CM000686.2:g.12757146C>T | GRCh38 |
| NC_000024.9:g.14869076C>T , CM000686.1:g.14869076C>T | GRCh37 |
| NC_000024.8:g.13378470C>T | NCBI36 |
| NG_008311.1:g.60917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.1423-46C>T | ENSP00000498372.1:n.1423-46C>T | |
| ENST00000338981.7:c.1423-46C>T MANE Select | ENSP00000342812.3:n.1423-46C>T | |
| ENST00000426564.6:n.1435-46C>T | ||
| NM_004654.3:c.1423-46C>T | NP_004645.2:n.1423-46C>T | |
| XM_011531469.1:c.1423-46C>T | XP_011529771.1:n.1423-46C>T | |
| XM_011531470.1:c.1189-46C>T | XP_011529772.1:n.1189-46C>T | |
| XM_017030078.2:c.1423-46C>T | XP_016885567.1:n.1423-46C>T | |
| NM_004654.4:c.1423-46C>T MANE Select | NP_004645.2:n.1423-46C>T |