gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008175 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00008125 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89225152G>C , CM000672.2:g.89225152G>C | GRCh38 |
| NC_000010.10:g.90984909G>C , CM000672.1:g.90984909G>C | GRCh37 |
| NC_000010.9:g.90974889G>C | NCBI36 |
| NG_008194.1:g.31752C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.615C>G MANE Select | ENSP00000337354.5:p.Ser205= | |
| ENST00000282673.5:c.615C>G | ENSP00000282673.4:p.Ser205= | |
| ENST00000336233.9:c.615C>G | ENSP00000337354.5:p.Ser205= | |
| ENST00000371837.5:c.447C>G | ENSP00000360903.1:p.Ser149= | |
| ENST00000428800.5:c.615C>G | ENSP00000388415.1:p.Ser205= | |
| ENST00000456827.5:c.267C>G | ENSP00000413019.2:p.Ser89= | |
| NM_000235.3:c.615C>G | NP_000226.2:p.Ser205= | |
| NM_001127605.2:c.615C>G | NP_001121077.1:p.Ser205= | |
| NM_001288979.1:c.267C>G | NP_001275908.1:p.Ser89= | |
| XM_024448023.1:c.615C>G | XP_024303791.1:p.Ser205= | |
| NM_000235.4:c.615C>G MANE Select | NP_000226.2:p.Ser205= | |
| NM_001127605.3:c.615C>G | NP_001121077.1:p.Ser205= | |
| NM_001288979.2:c.267C>G | NP_001275908.1:p.Ser89= |