Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312496C>T , CM000668.2:g.35312496C>T | GRCh38 |
| NC_000006.11:g.35280273C>T , CM000668.1:g.35280273C>T | GRCh37 |
| NC_000006.10:g.35388251C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022047.4:c.618C>T MANE Select | NP_071330.3:p.Ile206= |
| ENST00000316637.7:c.618C>T MANE Select | ENSP00000319831.5:p.Ile206= |
| NM_022047.3:c.618C>T | NP_071330.3:p.Ile206= |
| ENST00000316637.6:c.618C>T | ENSP00000319831.5:p.Ile206= |
| ENST00000444278.2:c.343C>T | |
| ENST00000444278.3:c.507C>T | ENSP00000415357.3:p.Ile169= |
| ENST00000698929.1:c.423+1852C>T | ENSP00000514040.1:n.423+1852C>T |
| ENST00000698930.1:c.*265C>T | ENSP00000514041.1:n.*265C>T |
| ENST00000698931.1:n.642C>T |