Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354549C= , CM000678.2:g.81354549C= | GRCh38 |
| NC_000016.9:g.81388154C= , CM000678.1:g.81388154C= | GRCh37 |
| NC_000016.8:g.79945655C= | NCBI36 |
| NG_009007.1:g.44584C= , LRG_242:g.44584C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*135C= | ENSP00000498114.1:n.*135C= | |
| ENST00000648994.2:c.427C= MANE Select | ENSP00000497351.1:p.His143= | |
| ENST00000650388.1:c.168-2236C= | ENSP00000498081.1:n.168-2236C= | |
| ENST00000674788.1:n.552C= | ||
| ENST00000568107.2:c.427C= | ENSP00000476795.1:p.His143= | |
| NM_022041.3:c.427C= , LRG_242t1:c.427C= | NP_071324.1:p.His143= | |
| XM_017023734.1:c.-213C= | XP_016879223.1:n.-213C= | |
| NM_001377486.1:c.-213C= | NP_001364415.1:n.-213C= | |
| NM_022041.4:c.427C= MANE Select | NP_071324.1:p.His143= |