Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40612364G= , CM000675.2:g.40612364G= | GRCh38 |
| NC_000013.10:g.41186501G= , CM000675.1:g.41186501G= | GRCh37 |
| NC_000013.9:g.40084501G= | NCBI36 |
| NG_023244.1:g.59234C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002015.4:c.631-51504C= MANE Select | NP_002006.2:n.631-51504C= |
| ENST00000379561.6:c.631-51504C= MANE Select | ENSP00000368880.4:n.631-51504C= |
| NM_002015.3:c.631-51504C= | NP_002006.2:n.631-51504C= |
| ENST00000379561.5:c.631-51504C= | ENSP00000368880.4:n.631-51504C= |
| ENST00000655267.1:n.334-49602C= | |
| ENST00000660760.1:n.397+20783C= | |
| XM_011535008.1:c.87+1786C= | XP_011533310.1:n.87+1786C= |
| XM_011535008.2:c.87+1786C= | XP_011533310.1:n.87+1786C= |
| XR_941536.1:n.1226+32975C= |