This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00347875 (SAS)
Genomes Max Group AF
0.00207706 (SAS)
Exomes Max Group AF
0.00349684 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13920878A>G , CM000681.2:g.13920878A>G | GRCh38 |
| NC_000019.9:g.14031691A>G , CM000681.1:g.14031691A>G | GRCh37 |
| NC_000019.8:g.13892691A>G | NCBI36 |
| NG_013089.1:g.19736A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679637.1:n.394A>G | ||
| ENST00000679937.1:n.296A>G | ||
| ENST00000680895.1:n.396A>G | ||
| ENST00000680977.1:c.354A>G | ||
| ENST00000681428.1:n.521A>G | ||
| ENST00000681846.1:n.354A>G | ||
| ENST00000318003.11:c.1597A>G MANE Select | ENSP00000313601.6:p.Met533Val | |
| ENST00000586955.5:c.1000A>G | ||
| ENST00000588932.1:n.521A>G | ||
| ENST00000589138.5:n.721A>G | ||
| ENST00000589606.5:c.1597A>G | ENSP00000467526.1:p.Met533Val | |
| ENST00000589679.5:n.499A>G | ||
| NM_017721.4:c.1597A>G | NP_060191.3:p.Met533Val | |
| XM_005259972.2:c.1594A>G | XP_005260029.1:p.Met532Val | |
| XM_005259973.2:c.1597A>G | XP_005260030.1:p.Met533Val | |
| XM_005259974.2:c.1585A>G | XP_005260031.1:p.Met529Val | |
| XM_005259975.2:c.1582A>G | XP_005260032.1:p.Met528Val | |
| XM_005259973.3:c.1597A>G | XP_005260030.1:p.Met533Val | |
| XM_005259974.3:c.1585A>G | XP_005260031.1:p.Met529Val | |
| XM_024451562.1:c.1597A>G | XP_024307330.1:p.Met533Val | |
| XM_024451563.1:c.1594A>G | XP_024307331.1:p.Met532Val | |
| XM_024451564.1:c.1585A>G | XP_024307332.1:p.Met529Val | |
| XM_024451565.1:c.1582A>G | XP_024307333.1:p.Met528Val | |
| NM_017721.5:c.1597A>G MANE Select | NP_060191.3:p.Met533Val |