Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63406212T>A , CM000673.2:g.63406212T>A | GRCh38 |
| NC_000011.9:g.63173684T>A , CM000673.1:g.63173684T>A | GRCh37 |
| NC_000011.8:g.62930260T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080866.3:c.1074-285T>A MANE Select | NP_543142.2:n.1074-285T>A |
| ENST00000279178.4:c.1074-285T>A MANE Select | ENSP00000279178.3:n.1074-285T>A |
| NM_080866.2:c.1074-285T>A | NP_543142.2:n.1074-285T>A |
| ENST00000279178.3:c.1074-285T>A | ENSP00000279178.3:n.1074-285T>A |
| ENST00000536333.5:c.*202-285T>A | ENSP00000440206.1:n.*202-285T>A |
| XM_017017159.2:c.1074-285T>A | XP_016872648.1:n.1074-285T>A |
| XM_017017160.1:c.381-285T>A | XP_016872649.1:n.381-285T>A |