gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00361938 (NFE)
Genomes Max Group AF
0.00339873 (NFE)
Exomes Max Group AF
0.00361335 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519022G>C , CM000669.2:g.92519022G>C | GRCh38 |
| NC_000007.13:g.92148336G>C , CM000669.1:g.92148336G>C | GRCh37 |
| NC_000007.12:g.91986272G>C | NCBI36 |
| NG_008341.1:g.14510C>G | |
| NG_008341.2:g.14510C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.330C>G MANE Select | ENSP00000248633.4:p.Pro110= | |
| ENST00000248633.8:c.330C>G | ENSP00000248633.4:p.Pro110= | |
| ENST00000428214.5:c.330C>G | ENSP00000394413.1:p.Pro110= | |
| ENST00000438045.5:c.273+3080C>G | ENSP00000410438.1:n.273+3080C>G | |
| ENST00000484913.5:n.334C>G | ||
| NM_000466.2:c.330C>G | NP_000457.1:p.Pro110= | |
| NM_001282677.1:c.330C>G | NP_001269606.1:p.Pro110= | |
| NM_001282678.1:c.-330C>G | NP_001269607.1:n.-330C>G | |
| XR_242246.3:n.426C>G | ||
| XR_242246.5:n.377C>G | ||
| NM_000466.3:c.330C>G MANE Select | NP_000457.1:p.Pro110= | |
| NM_001282677.2:c.330C>G | NP_001269606.1:p.Pro110= | |
| NM_001282678.2:c.-330C>G | NP_001269607.1:n.-330C>G |