Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039978C>T , CM000663.2:g.55039978C>T | GRCh38 |
| NC_000001.10:g.55505651C>T , CM000663.1:g.55505651C>T | GRCh37 |
| NC_000001.9:g.55278239C>T | NCBI36 |
| NG_009061.1:g.5432C>T , LRG_275:g.5432C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.141C>T MANE Select | NP_777596.2:p.Ser47= |
| ENST00000302118.5:c.141C>T MANE Select | ENSP00000303208.5:p.Ser47= |
| NM_174936.3:c.141C>T , LRG_275t1:c.141C>T | NP_777596.2:p.Ser47= |
| ENST00000673726.1:c.141C>T | ENSP00000501004.1:p.Ser47= |
| ENST00000673913.2:c.141C>T | ENSP00000501161.2:p.Ser47= |
| ENST00000710286.1:c.498C>T | ENSP00000518176.1:p.Ser166= |