Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.39922470C>A , CM000670.2:g.39922470C>A | GRCh38 |
| NC_000008.10:g.39779989C>A , CM000670.1:g.39779989C>A | GRCh37 |
| NC_000008.9:g.39899146C>A | NCBI36 |
| NG_028155.1:g.13662C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002164.6:c.438-82C>A MANE Select | NP_002155.1:n.438-82C>A |
| ENST00000518237.6:c.438-82C>A MANE Select | ENSP00000430950.1:n.438-82C>A |
| NM_002164.5:c.438-82C>A | NP_002155.1:n.438-82C>A |
| ENST00000253513.11:c.434-82C>A | ENSP00000253513.7:n.434-82C>A |
| ENST00000518237.5:c.438-82C>A | ENSP00000430950.1:n.438-82C>A |
| ENST00000519154.5:c.438-82C>A | ENSP00000428716.1:n.438-82C>A |
| ENST00000521636.1:n.341-82C>A | |
| ENST00000522495.5:c.438-82C>A | ENSP00000430505.1:n.438-82C>A |