Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851186C= , CM000664.2:g.135851186C= | GRCh38 |
| NC_000002.11:g.136608756C= , CM000664.1:g.136608756C= | GRCh37 |
| NC_000002.10:g.136325226C= | NCBI36 |
| NG_008104.2:g.8984G= , LRG_338:g.8984G= | |
| NG_008958.1:g.30256G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+216G= MANE Select | ENSP00000264156.2:n.1917+216G= | |
| ENST00000264156.2:c.1917+216G= | ENSP00000264156.2:n.1917+216G= | |
| ENST00000483902.1:n.544+216G= | ||
| ENST00000492091.1:n.343+216G= | ||
| NM_005915.5:c.1917+216G= | NP_005906.2:n.1917+216G= | |
| NM_005915.6:c.1917+216G= MANE Select | NP_005906.2:n.1917+216G= |