ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01844043 (NFE)
Genomes Max Group AF
0.01711283 (NFE)
Exomes Max Group AF
0.01847708 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42048736G>C , CM000664.2:g.42048736G>C | GRCh38 |
| NC_000002.11:g.42275876G>C , CM000664.1:g.42275876G>C | GRCh37 |
| NC_000002.10:g.42129380G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294964.6:c.537G>C MANE Select | ENSP00000294964.5:p.Val179= | |
| ENST00000294964.5:c.537G>C | ENSP00000294964.5:p.Val179= | |
| ENST00000401498.6:c.395G>C | ENSP00000385220.2:p.Cys132Ser | |
| ENST00000485578.1:n.158G>C | ||
| NM_138370.2:c.537G>C | NP_612379.2:p.Val179= | |
| NM_138370.3:c.537G>C MANE Select | NP_612379.2:p.Val179= |