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:
gnomAD v4:
Joint Max Group AF
0.00069743 (AFR)
Genomes Max Group AF
0.00080927 (AFR)
Exomes Max Group AF
0.00042099 (AFR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28503022G>T , CM000670.2:g.28503022G>T | GRCh38 |
| NC_000008.10:g.28360539G>T , CM000670.1:g.28360539G>T | GRCh37 |
| NC_000008.9:g.28416458G>T | NCBI36 |
| NG_029723.1:g.13818G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240093.8:c.9G>T MANE Select | ENSP00000240093.3:p.Met3Ile | |
| ENST00000240093.7:c.9G>T | ENSP00000240093.3:p.Met3Ile | |
| ENST00000523546.1:c.9G>T | ENSP00000430125.1:p.Met3Ile | |
| ENST00000537916.2:c.9G>T | ENSP00000437489.1:p.Met3Ile | |
| NM_017412.3:c.9G>T | NP_059108.1:p.Met3Ile | |
| NM_145866.1:c.9G>T | NP_665873.1:p.Met3Ile | |
| XM_011544648.1:c.9G>T | XP_011542950.1:p.Met3Ile | |
| XR_949476.1:n.528G>T | ||
| XR_949477.1:n.528G>T | ||
| XR_949478.1:n.528G>T | ||
| XM_017013842.1:c.9G>T | XP_016869331.1:p.Met3Ile | |
| XM_017013843.1:c.9G>T | XP_016869332.1:p.Met3Ile | |
| XM_017013844.1:c.9G>T | XP_016869333.1:p.Met3Ile | |
| XR_001745597.2:n.485G>T | ||
| XR_949476.2:n.528G>T | ||
| NM_017412.4:c.9G>T MANE Select | NP_059108.1:p.Met3Ile | |
| NM_145866.2:c.9G>T | NP_665873.1:p.Met3Ile |