gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63113492 (EAS)
Genomes Max Group AF
0.63113492 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100596679C>T , CM000685.2:g.100596679C>T | GRCh38 |
| NC_000023.10:g.99851676C>T , CM000685.1:g.99851676C>T | GRCh37 |
| NC_000023.9:g.99738332C>T | NCBI36 |
| NG_013266.1:g.16887C>T | |
| NG_013266.2:g.16887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373031.5:c.424-825C>T MANE Select | ENSP00000362122.4:n.424-825C>T | |
| ENST00000373031.4:c.424-825C>T | ENSP00000362122.4:n.424-825C>T | |
| ENST00000485971.1:n.515-825C>T | ||
| NM_022144.2:c.424-825C>T | NP_071427.2:n.424-825C>T | |
| XM_005262175.3:c.235-825C>T | XP_005262232.1:n.235-825C>T | |
| XM_005262176.1:c.424-825C>T | XP_005262233.1:n.424-825C>T | |
| XM_011531008.1:c.235-825C>T | XP_011529310.1:n.235-825C>T | |
| XM_011531009.1:c.235-825C>T | XP_011529311.1:n.235-825C>T | |
| XM_011531010.1:c.235-825C>T | XP_011529312.1:n.235-825C>T | |
| NM_022144.3:c.424-825C>T MANE Select | NP_071427.2:n.424-825C>T |