Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10760165T>A , CM000673.2:g.10760165T>A | GRCh38 |
| NC_000011.9:g.10781712T>A , CM000673.1:g.10781712T>A | GRCh37 |
| NC_000011.8:g.10738288T>A | NCBI36 |
| NG_051671.1:g.14179T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014633.5:c.593-8T>A MANE Select | NP_055448.1:n.593-8T>A |
| ENST00000361367.7:c.593-8T>A MANE Select | ENSP00000355013.2:n.593-8T>A |
| NM_001346279.1:c.593-8T>A | NP_001333208.1:n.593-8T>A |
| NM_001346279.2:c.593-8T>A | NP_001333208.1:n.593-8T>A |
| NM_014633.4:c.593-8T>A | NP_055448.1:n.593-8T>A |
| ENST00000361367.6:c.593-8T>A | ENSP00000355013.2:n.593-8T>A |
| ENST00000524523.1:c.554-8T>A | ENSP00000431458.1:n.554-8T>A |