Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215780217G= , CM000663.2:g.215780217G= | GRCh38 |
| NC_000001.10:g.215953559G= , CM000663.1:g.215953559G= | GRCh37 |
| NC_000001.9:g.214020182G= | NCBI36 |
| NG_009497.1:g.648180C= | |
| NG_009497.2:g.648232C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10741-176C= MANE Select | ENSP00000305941.3:n.10741-176C= | |
| ENST00000674083.1:c.10741-176C= | ENSP00000501296.1:n.10741-176C= | |
| ENST00000307340.7:c.10741-176C= | ENSP00000305941.3:n.10741-176C= | |
| NM_206933.2:c.10741-176C= | NP_996816.2:n.10741-176C= | |
| NM_206933.3:c.10741-176C= | NP_996816.2:n.10741-176C= | |
| NM_206933.4:c.10741-176C= MANE Select | NP_996816.3:n.10741-176C= |