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.102843552A>G , CM000674.2:g.102843552A>G | GRCh38 |
| NC_000012.11:g.103237330A>G , CM000674.1:g.103237330A>G | GRCh37 |
| NC_000012.10:g.101761460A>G | NCBI36 |
| NG_008690.1:g.79051T>C | |
| NG_008690.2:g.119859T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1199+94T>C MANE Select | ENSP00000448059.1:n.1199+94T>C | |
| ENST00000307000.7:c.1184+94T>C | ENSP00000303500.2:n.1184+94T>C | |
| ENST00000549247.6:n.958+94T>C | ||
| ENST00000551114.2:n.861+94T>C | ||
| ENST00000553106.5:c.1199+94T>C | ENSP00000448059.1:n.1199+94T>C | |
| ENST00000635477.1:c.303+94T>C | ||
| ENST00000635528.1:n.714+94T>C | ||
| NM_000277.1:c.1199+94T>C | NP_000268.1:n.1199+94T>C | |
| XM_011538422.1:c.1142+94T>C | XP_011536724.1:n.1142+94T>C | |
| NM_000277.2:c.1199+94T>C | NP_000268.1:n.1199+94T>C | |
| NM_001354304.1:c.1199+94T>C | NP_001341233.1:n.1199+94T>C | |
| NM_000277.3:c.1199+94T>C MANE Select | NP_000268.1:n.1199+94T>C | |
| NM_001354304.2:c.1199+94T>C | NP_001341233.1:n.1199+94T>C |