Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81362537A>T , CM000678.2:g.81362537A>T | GRCh38 |
| NC_000016.9:g.81396142A>T , CM000678.1:g.81396142A>T | GRCh37 |
| NC_000016.8:g.79953643A>T | NCBI36 |
| NG_009007.1:g.52572A>T , LRG_242:g.52572A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022041.4:c.1012A>T MANE Select | NP_071324.1:p.Lys338Ter |
| ENST00000648994.2:c.1012A>T MANE Select | ENSP00000497351.1:p.Lys338Ter |
| NM_001377486.1:c.373A>T | NP_001364415.1:p.Lys125Ter |
| NM_022041.3:c.1012A>T , LRG_242t1:c.1012A>T | NP_071324.1:p.Lys338Ter |
| ENST00000568107.2:c.1012A>T | ENSP00000476795.1:p.Lys338Ter |
| ENST00000648349.2:c.*720A>T | ENSP00000498114.1:n.*720A>T |
| ENST00000650388.1:c.546A>T | ENSP00000498081.1:n.546A>T |
| XM_017023734.1:c.373A>T | XP_016879223.1:p.Lys125Ter |