gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12141649 (AFR)
Genomes Max Group AF
0.1186293 (AFR)
Exomes Max Group AF
0.12320533 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99311443T>C , CM000666.2:g.99311443T>C | GRCh38 |
| NC_000004.11:g.100232600T>C , CM000666.1:g.100232600T>C | GRCh37 |
| NC_000004.10:g.100451623T>C | NCBI36 |
| NG_011435.1:g.14973A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.964+78A>G MANE Select | ENSP00000306606.8:n.964+78A>G | |
| ENST00000639454.1:c.964+78A>G | ENSP00000491622.1:n.964+78A>G | |
| ENST00000305046.12:c.964+78A>G | ENSP00000306606.8:n.964+78A>G | |
| ENST00000506651.5:c.844+78A>G | ENSP00000425998.2:n.844+78A>G | |
| ENST00000515694.4:n.3059+78A>G | ||
| ENST00000625860.2:c.844+78A>G | ENSP00000486614.1:n.844+78A>G | |
| NM_000668.5:c.964+78A>G | NP_000659.2:n.964+78A>G | |
| NM_001286650.1:c.844+78A>G | NP_001273579.1:n.844+78A>G | |
| NM_000668.6:c.964+78A>G MANE Select | NP_000659.2:n.964+78A>G | |
| NM_001286650.2:c.844+78A>G | NP_001273579.1:n.844+78A>G |