gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28955799 (AFR)
Genomes Max Group AF
0.28955799 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162143120C>G , CM000663.2:g.162143120C>G | GRCh38 |
| NC_000001.10:g.162112910C>G , CM000663.1:g.162112910C>G | GRCh37 |
| NC_000001.9:g.160379534C>G | NCBI36 |
| NG_015979.1:g.78330C>G | |
| NG_015979.2:g.78330C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.106-11285C>G MANE Select | ENSP00000355133.5:n.106-11285C>G | |
| ENST00000361897.9:c.106-11285C>G | ENSP00000355133.5:n.106-11285C>G | |
| ENST00000430120.3:c.106-11285C>G | ENSP00000396713.3:n.106-11285C>G | |
| ENST00000530878.5:c.106-11285C>G | ENSP00000431586.1:n.106-11285C>G | |
| NM_001164757.1:c.106-11285C>G | NP_001158229.1:n.106-11285C>G | |
| NM_014697.2:c.106-11285C>G | NP_055512.1:n.106-11285C>G | |
| XR_922217.1:n.713-9994G>C | ||
| XR_922219.1:n.712+25162G>C | ||
| XR_922221.1:n.712+25162G>C | ||
| XR_002958375.1:n.3671-9994G>C | ||
| XR_002958378.1:n.3670+25162G>C | ||
| NM_014697.3:c.106-11285C>G MANE Select | NP_055512.1:n.106-11285C>G | |
| NM_001164757.2:c.106-11285C>G | NP_001158229.1:n.106-11285C>G |