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 v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965814A>G , CM000670.2:g.37965814A>G | GRCh38 |
| NC_000008.10:g.37823332A>G , CM000670.1:g.37823332A>G | GRCh37 |
| NC_000008.9:g.37942489A>G | NCBI36 |
| NG_011936.1:g.5853T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.656T>C MANE Select | ENSP00000343782.3:p.Val219Ala | |
| ENST00000520341.2:n.784T>C | ||
| ENST00000647937.1:c.140T>C | ENSP00000497740.1:p.Val47Ala | |
| ENST00000345060.4:c.656T>C | ENSP00000343782.3:p.Val219Ala | |
| ENST00000614635.1:c.656T>C | ENSP00000480325.1:p.Val219Ala | |
| NM_000025.2:c.656T>C | NP_000016.1:p.Val219Ala | |
| NM_000025.3:c.656T>C MANE Select | NP_000016.1:p.Val219Ala |