This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102676908C>G , CM000672.2:g.102676908C>G | GRCh38 |
| NC_000010.10:g.104436665C>G , CM000672.1:g.104436665C>G | GRCh37 |
| NC_000010.9:g.104426655C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.535G>C MANE Select | ENSP00000260746.4:p.Ala179Pro | |
| ENST00000260746.5:c.535G>C | ENSP00000260746.4:p.Ala179Pro | |
| NM_004311.3:c.535G>C | NP_004302.1:p.Ala179Pro | |
| XM_017016260.1:c.535G>C | XP_016871749.1:p.Ala179Pro | |
| NM_004311.4:c.535G>C MANE Select | NP_004302.1:p.Ala179Pro |