ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015373 (SAS)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00016298 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146051G>A , CM000670.2:g.38146051G>A | GRCh38 |
| NC_000008.10:g.38003569G>A , CM000670.1:g.38003569G>A | GRCh37 |
| NC_000008.9:g.38122726G>A | NCBI36 |
| NG_011827.1:g.10032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.562C>T MANE Select | ENSP00000276449.3:p.Arg188Cys | |
| ENST00000276449.8:c.562C>T | ENSP00000276449.3:p.Arg188Cys | |
| ENST00000520114.1:n.1049C>T | ||
| ENST00000522050.1:c.498C>T | ||
| NM_000349.2:c.562C>T | NP_000340.2:p.Arg188Cys | |
| XM_006716392.1:c.562C>T | XP_006716455.1:p.Arg188Cys | |
| NM_000349.3:c.562C>T MANE Select | NP_000340.2:p.Arg188Cys |