Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313563A= , CM000672.2:g.30313563A= | GRCh38 |
| NC_000010.10:g.30602492A= , CM000672.1:g.30602492A= | GRCh37 |
| NC_000010.9:g.30642498A= | NCBI36 |
| NG_028096.1:g.40776T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.*46T= MANE Select | ENSP00000263063.3:n.*46T= | |
| ENST00000263063.8:c.*46T= | ENSP00000263063.3:n.*46T= | |
| ENST00000488290.5:n.3550T= | ||
| NM_018109.3:c.*46T= | NP_060579.3:n.*46T= | |
| NM_018109.4:c.*46T= MANE Select | NP_060579.3:n.*46T= |