gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16356766 (AFR)
Genomes Max Group AF
0.16354528 (AFR)
Exomes Max Group AF
0.12449777 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99360257C>T , CM000669.2:g.99360257C>T | GRCh38 |
| NC_000007.13:g.98957880C>T , CM000669.1:g.98957880C>T | GRCh37 |
| NC_000007.12:g.98795816C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262942.10:c.983+519C>T MANE Select | ENSP00000262942.5:n.983+519C>T | |
| ENST00000638617.1:c.983+519C>T | ENSP00000491073.1:n.983+519C>T | |
| ENST00000262942.9:c.983+519C>T | ENSP00000262942.5:n.983+519C>T | |
| ENST00000432786.5:c.*142+519C>T | ENSP00000408711.1:n.*142+519C>T | |
| ENST00000441989.6:c.*1005+519C>T | ENSP00000412879.1:n.*1005+519C>T | |
| ENST00000463009.1:n.304+519C>T | ||
| NM_001190996.1:c.941+519C>T | NP_001177925.1:n.941+519C>T | |
| NM_006409.3:c.983+519C>T | NP_006400.2:n.983+519C>T | |
| NM_006409.4:c.983+519C>T MANE Select | NP_006400.2:n.983+519C>T | |
| NM_001190996.2:c.941+519C>T | NP_001177925.1:n.941+519C>T |