Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232407142C>T , CM000664.2:g.232407142C>T | GRCh38 |
| NC_000002.11:g.233271852C>T , CM000664.1:g.233271852C>T | GRCh37 |
| NC_000002.10:g.232980096C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031313.3:c.153C>T MANE Select | NP_112603.2:p.Ala51= |
| ENST00000295453.8:c.153C>T MANE Select | ENSP00000295453.3:p.Ala51= |
| NM_031313.2:c.153C>T | NP_112603.2:p.Ala51= |
| ENST00000295453.7:c.153C>T | ENSP00000295453.3:p.Ala51= |
| ENST00000611550.1:c.153C>T | ENSP00000483564.1:p.Ala51= |