Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313483A= , CM000672.2:g.30313483A= | GRCh38 |
| NC_000010.10:g.30602412A= , CM000672.1:g.30602412A= | GRCh37 |
| NC_000010.9:g.30642418A= | NCBI36 |
| NG_028096.1:g.40856T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.*126T= MANE Select | ENSP00000263063.3:n.*126T= | |
| ENST00000263063.8:c.*126T= | ENSP00000263063.3:n.*126T= | |
| ENST00000488290.5:n.3630T= | ||
| NM_018109.3:c.*126T= | NP_060579.3:n.*126T= | |
| NM_018109.4:c.*126T= MANE Select | NP_060579.3:n.*126T= |