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