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 v3:
gnomAD v4:
Joint Max Group AF
7.7e-7 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843564T>C , CM000674.2:g.102843564T>C | GRCh38 |
| NC_000012.11:g.103237342T>C , CM000674.1:g.103237342T>C | GRCh37 |
| NC_000012.10:g.101761472T>C | NCBI36 |
| NG_008690.1:g.79039A>G | |
| NG_008690.2:g.119847A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1199+82A>G MANE Select | ENSP00000448059.1:n.1199+82A>G | |
| ENST00000307000.7:c.1184+82A>G | ENSP00000303500.2:n.1184+82A>G | |
| ENST00000549247.6:n.958+82A>G | ||
| ENST00000551114.2:n.861+82A>G | ||
| ENST00000553106.5:c.1199+82A>G | ENSP00000448059.1:n.1199+82A>G | |
| ENST00000635477.1:c.303+82A>G | ||
| ENST00000635528.1:n.714+82A>G | ||
| NM_000277.1:c.1199+82A>G | NP_000268.1:n.1199+82A>G | |
| XM_011538422.1:c.1142+82A>G | XP_011536724.1:n.1142+82A>G | |
| NM_000277.2:c.1199+82A>G | NP_000268.1:n.1199+82A>G | |
| NM_001354304.1:c.1199+82A>G | NP_001341233.1:n.1199+82A>G | |
| NM_000277.3:c.1199+82A>G MANE Select | NP_000268.1:n.1199+82A>G | |
| NM_001354304.2:c.1199+82A>G | NP_001341233.1:n.1199+82A>G |