Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313489T= , CM000672.2:g.30313489T= | GRCh38 |
| NC_000010.10:g.30602418T= , CM000672.1:g.30602418T= | GRCh37 |
| NC_000010.9:g.30642424T= | NCBI36 |
| NG_028096.1:g.40850A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.*120A= MANE Select | ENSP00000263063.3:n.*120A= | |
| ENST00000263063.8:c.*120A= | ENSP00000263063.3:n.*120A= | |
| ENST00000488290.5:n.3624A= | ||
| NM_018109.3:c.*120A= | NP_060579.3:n.*120A= | |
| NM_018109.4:c.*120A= MANE Select | NP_060579.3:n.*120A= |