Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124960947A= , CM000672.2:g.124960947A= | GRCh38 |
| NC_000010.10:g.126649516A= , CM000672.1:g.126649516A= | GRCh37 |
| NC_000010.9:g.126639506A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017580.3:c.815-5647A= MANE Select | NP_060050.2:n.815-5647A= |
| ENST00000359653.4:c.815-5647A= MANE Select | ENSP00000352676.4:n.815-5647A= |
| NM_017580.2:c.815-5647A= | NP_060050.2:n.815-5647A= |
| XM_005269925.3:c.893-5647A= | XP_005269982.1:n.893-5647A= |
| XM_005269926.3:c.815-5647A= | XP_005269983.1:n.815-5647A= |
| XM_006717907.1:c.893-5647A= | XP_006717970.1:n.893-5647A= |
| XM_006717907.2:c.893-5647A= | XP_006717970.1:n.893-5647A= |
| XM_017016358.2:c.-286-1340A= | XP_016871847.1:n.-286-1340A= |