gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27613453 (AFR)
Genomes Max Group AF
0.27623 (AFR)
Exomes Max Group AF
0.25926059 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132658977C>T , CM000667.2:g.132658977C>T | GRCh38 |
| NC_000005.9:g.131994669C>T , CM000667.1:g.131994669C>T | GRCh37 |
| NC_000005.8:g.132022568C>T | NCBI36 |
| NG_012090.1:g.5805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304506.7:c.175-441C>T MANE Select | ENSP00000304915.3:n.175-441C>T | |
| ENST00000459878.5:n.179-441C>T | ||
| ENST00000462480.1:n.805C>T | ||
| ENST00000468334.5:n.548-441C>T | ||
| ENST00000487267.5:n.346-441C>T | ||
| ENST00000617259.2:c.133-441C>T | ENSP00000479835.1:n.133-441C>T | |
| NM_002188.2:c.175-441C>T | NP_002179.2:n.175-441C>T | |
| NM_001354991.1:c.-21-441C>T | NP_001341920.1:n.-21-441C>T | |
| NM_001354992.1:c.-21-441C>T | NP_001341921.1:n.-21-441C>T | |
| NM_001354993.1:c.-21-441C>T | NP_001341922.1:n.-21-441C>T | |
| NM_002188.3:c.175-441C>T MANE Select | NP_002179.2:n.175-441C>T | |
| NM_001354991.2:c.-21-441C>T | NP_001341920.1:n.-21-441C>T | |
| NM_001354992.2:c.-21-441C>T | NP_001341921.1:n.-21-441C>T | |
| NM_001354993.2:c.-21-441C>T | NP_001341922.1:n.-21-441C>T |