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
0.00007077 (NFE)
Genomes Max Group AF
0.00003761 (NFE)
Exomes Max Group AF
0.00007048 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139259310A>C , CM000669.2:g.139259310A>C | GRCh38 |
| NC_000007.13:g.138944056A>C , CM000669.1:g.138944056A>C | GRCh37 |
| NC_000007.12:g.138594596A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473989.8:c.845A>C MANE Select | ENSP00000418648.2:p.Lys282Thr | |
| ENST00000473989.7:c.845A>C | ENSP00000418648.2:p.Lys282Thr | |
| ENST00000483726.1:c.151A>C | ||
| ENST00000486663.5:c.314A>C | ENSP00000417849.1:p.Lys105Thr | |
| NM_173569.3:c.845A>C | NP_775840.3:p.Lys282Thr | |
| XM_005250249.2:c.842A>C | XP_005250306.2:p.Lys281Thr | |
| XM_006715916.2:c.743A>C | XP_006715979.2:p.Lys248Thr | |
| XM_011516002.1:c.845A>C | XP_011514304.1:p.Lys282Thr | |
| XM_011516003.1:c.845A>C | XP_011514305.1:p.Lys282Thr | |
| NM_173569.4:c.845A>C MANE Select | NP_775840.3:p.Lys282Thr | |
| XM_005250249.4:c.842A>C | XP_005250306.2:p.Lys281Thr | |
| XM_006715916.4:c.743A>C | XP_006715979.2:p.Lys248Thr | |
| XM_011516002.3:c.845A>C | XP_011514304.1:p.Lys282Thr | |
| XM_011516003.2:c.845A>C | XP_011514305.1:p.Lys282Thr | |
| XM_024446704.1:c.314A>C | XP_024302472.1:p.Lys105Thr |