Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32940975G>A , CM000668.2:g.32940975G>A | GRCh38 |
| NC_000006.11:g.32908752G>A , CM000668.1:g.32908752G>A | GRCh37 |
| NC_000006.10:g.33016730G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002118.5:c.-168C>T MANE Select | NP_002109.2:n.-168C>T |
| ENST00000418107.3:c.-168C>T MANE Select | ENSP00000398890.2:n.-168C>T |
| NM_002118.4:c.-168C>T | NP_002109.2:n.-168C>T |
| ENST00000418107.2:c.-168C>T | ENSP00000398890.2:n.-168C>T |
| ENST00000429234.1:c.89-160C>T | ENSP00000412457.1:n.89-160C>T |
| ENST00000498020.1:n.10C>T |