Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1438239A= , CM000667.2:g.1438239A= | GRCh38 |
| NC_000005.9:g.1438354A= , CM000667.1:g.1438354A= | GRCh37 |
| NC_000005.8:g.1491354A= | NCBI36 |
| NG_015885.1:g.12190T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.418+3120T= MANE Select | NP_001035.1:n.418+3120T= |
| ENST00000270349.12:c.418+3120T= MANE Select | ENSP00000270349.9:n.418+3120T= |
| NM_001044.4:c.418+3120T= | NP_001035.1:n.418+3120T= |
| ENST00000270349.11:c.418+3120T= | ENSP00000270349.9:n.418+3120T= |