Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31576785C>T , CM000668.2:g.31576785C>T | GRCh38 |
| NC_000006.11:g.31544562C>T , CM000668.1:g.31544562C>T | GRCh37 |
| NC_000006.10:g.31652541C>T | NCBI36 |
| NG_007462.1:g.6213C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000594.4:c.251C>T MANE Select | NP_000585.2:p.Pro84Leu |
| ENST00000449264.3:c.251C>T MANE Select | ENSP00000398698.2:p.Pro84Leu |
| NM_000594.3:c.251C>T | NP_000585.2:p.Pro84Leu |
| ENST00000449264.2:c.251C>T | ENSP00000398698.2:p.Pro84Leu |
| ENST00000699334.1:c.205C>T | ENSP00000514308.1:p.Arg69Ter |