Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354564C= , CM000678.2:g.81354564C= | GRCh38 |
| NC_000016.9:g.81388169C= , CM000678.1:g.81388169C= | GRCh37 |
| NC_000016.8:g.79945670C= | NCBI36 |
| NG_009007.1:g.44599C= , LRG_242:g.44599C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*150C= | ENSP00000498114.1:n.*150C= | |
| ENST00000648994.2:c.442C= MANE Select | ENSP00000497351.1:p.His148= | |
| ENST00000650388.1:c.168-2221C= | ENSP00000498081.1:n.168-2221C= | |
| ENST00000674788.1:n.567C= | ||
| ENST00000568107.2:c.442C= | ENSP00000476795.1:p.His148= | |
| NM_022041.3:c.442C= , LRG_242t1:c.442C= | NP_071324.1:p.His148= | |
| XM_017023734.1:c.-198C= | XP_016879223.1:n.-198C= | |
| NM_001377486.1:c.-198C= | NP_001364415.1:n.-198C= | |
| NM_022041.4:c.442C= MANE Select | NP_071324.1:p.His148= |