ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004379 (AFR)
Genomes Max Group AF
0.00006283 (AFR)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211479297G>C , CM000663.2:g.211479297G>C | GRCh38 |
| NC_000001.10:g.211652639G>C , CM000663.1:g.211652639G>C | GRCh37 |
| NC_000001.9:g.209719262G>C | NCBI36 |
| NG_013042.1:g.18621C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367002.5:c.327C>G | ENSP00000355969.4:p.Pro109= | |
| ENST00000680073.1:c.327C>G MANE Select | ENSP00000505312.1:p.Pro109= | |
| ENST00000367002.4:c.327C>G | ENSP00000355969.4:p.Pro109= | |
| ENST00000484910.1:n.295C>G | ||
| NM_001164688.1:c.327C>G | NP_001158160.1:p.Pro109= | |
| NM_183059.2:c.327C>G | NP_898882.1:p.Pro109= | |
| XM_011509479.1:c.327C>G | XP_011507781.1:p.Pro109= | |
| XM_017001151.1:c.363C>G | XP_016856640.1:p.Pro121= | |
| NM_183059.3:c.327C>G | NP_898882.1:p.Pro109= | |
| NM_001164688.2:c.327C>G MANE Select | NP_001158160.1:p.Pro109= |