Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.29345416T= , CM000683.2:g.29345416T= | GRCh38 |
| NC_000021.8:g.30717737T= , CM000683.1:g.30717737T= | GRCh37 |
| NC_000021.7:g.29639608T= | NCBI36 |
| NG_029658.1:g.51518T= | |
| NG_029658.2:g.51518T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001186.4:c.*2583T= MANE Select | NP_001177.1:n.*2583T= |
| ENST00000286800.8:c.*2583T= MANE Select | ENSP00000286800.3:n.*2583T= |
| NM_001186.3:c.*2583T= | NP_001177.1:n.*2583T= |
| NM_206866.2:c.*2583T= | NP_996749.1:n.*2583T= |
| NM_206866.3:c.*2583T= | NP_996749.1:n.*2583T= |
| NR_027655.2:n.1956-6218T= | |
| NR_027655.3:n.1956-6218T= | |
| ENST00000286800.7:c.*2583T= | ENSP00000286800.3:n.*2583T= |
| ENST00000399921.5:c.*2583T= | ENSP00000382805.1:n.*2583T= |
| ENST00000422809.5:c.472+15723T= | |
| ENST00000468059.1:c.325+15723T= |