Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118005440A= , CM000673.2:g.118005440A= | GRCh38 |
| NC_000011.9:g.117876155A= , CM000673.1:g.117876155A= | GRCh37 |
| NC_000011.8:g.117381365A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001394165.1:c.*970T= MANE Select | NP_001381094.1:n.*970T= |
| ENST00000689828.1:c.*970T= MANE Select | ENSP00000509259.1:n.*970T= |
| NM_001394164.1:c.*970T= | NP_001381093.1:n.*970T= |
| NM_001394166.1:c.*970T= | NP_001381095.1:n.*970T= |
| ENST00000636151.1:c.*1014T= | ENSP00000490666.1:n.*1014T= |
| XM_024448283.1:c.*970T= | XP_024304051.1:n.*970T= |
| XR_002957112.1:n.1624T= | |
| XR_002957113.1:n.1140T= |