This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965704G>T , CM000670.2:g.37965704G>T | GRCh38 |
| NC_000008.10:g.37823222G>T , CM000670.1:g.37823222G>T | GRCh37 |
| NC_000008.9:g.37942379G>T | NCBI36 |
| NG_011936.1:g.5963C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.766C>A MANE Select | ENSP00000343782.3:p.Arg256Ser | |
| ENST00000520341.2:n.894C>A | ||
| ENST00000647937.1:c.250C>A | ENSP00000497740.1:p.Arg84Ser | |
| ENST00000345060.4:c.766C>A | ENSP00000343782.3:p.Arg256Ser | |
| ENST00000520341.1:n.41C>A | ||
| ENST00000614635.1:c.766C>A | ENSP00000480325.1:p.Arg256Ser | |
| NM_000025.2:c.766C>A | NP_000016.1:p.Arg256Ser | |
| NM_000025.3:c.766C>A MANE Select | NP_000016.1:p.Arg256Ser |