gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028025 (AFR)
Genomes Max Group AF
0.00028025 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133650175C>G , CM000671.2:g.133650175C>G | GRCh38 |
| NC_000009.11:g.136515297C>G , CM000671.1:g.136515297C>G | GRCh37 |
| NC_000009.10:g.135505118C>G | NCBI36 |
| NG_008645.1:g.18813C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1192-1459C>G MANE Select | ENSP00000376776.2:n.1192-1459C>G | |
| ENST00000393056.6:c.1192-1459C>G | ENSP00000376776.2:n.1192-1459C>G | |
| NM_000787.3:c.1192-1459C>G | NP_000778.3:n.1192-1459C>G | |
| NM_000787.4:c.1192-1459C>G MANE Select | NP_000778.3:n.1192-1459C>G |