This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843560C>A , CM000674.2:g.102843560C>A | GRCh38 |
| NC_000012.11:g.103237338C>A , CM000674.1:g.103237338C>A | GRCh37 |
| NC_000012.10:g.101761468C>A | NCBI36 |
| NG_008690.1:g.79043G>T | |
| NG_008690.2:g.119851G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1199+86G>T MANE Select | ENSP00000448059.1:n.1199+86G>T | |
| ENST00000307000.7:c.1184+86G>T | ENSP00000303500.2:n.1184+86G>T | |
| ENST00000549247.6:n.958+86G>T | ||
| ENST00000551114.2:n.861+86G>T | ||
| ENST00000553106.5:c.1199+86G>T | ENSP00000448059.1:n.1199+86G>T | |
| ENST00000635477.1:c.303+86G>T | ||
| ENST00000635528.1:n.714+86G>T | ||
| NM_000277.1:c.1199+86G>T | NP_000268.1:n.1199+86G>T | |
| XM_011538422.1:c.1142+86G>T | XP_011536724.1:n.1142+86G>T | |
| NM_000277.2:c.1199+86G>T | NP_000268.1:n.1199+86G>T | |
| NM_001354304.1:c.1199+86G>T | NP_001341233.1:n.1199+86G>T | |
| NM_000277.3:c.1199+86G>T MANE Select | NP_000268.1:n.1199+86G>T | |
| NM_001354304.2:c.1199+86G>T | NP_001341233.1:n.1199+86G>T |