Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55057423C>T , CM000663.2:g.55057423C>T | GRCh38 |
| NC_000001.10:g.55523096C>T , CM000663.1:g.55523096C>T | GRCh37 |
| NC_000001.9:g.55295684C>T | NCBI36 |
| NG_009061.1:g.22877C>T , LRG_275:g.22877C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.1089C>T MANE Select | NP_777596.2:p.Ala363= |
| ENST00000302118.5:c.1089C>T MANE Select | ENSP00000303208.5:p.Ala363= |
| NM_174936.3:c.1089C>T , LRG_275t1:c.1089C>T | NP_777596.2:p.Ala363= |
| NR_110451.1:n.748C>T | |
| NR_110451.2:n.748C>T | |
| ENST00000490692.1:n.1818-5C>T | |
| ENST00000673903.1:c.714C>T | ENSP00000501257.1:p.Ala238= |
| ENST00000673913.2:c.1089C>T | ENSP00000501161.2:p.Ala363= |
| ENST00000710286.1:c.1446C>T | ENSP00000518176.1:p.Ala482= |
| XM_011541193.1:c.210C>T | XP_011539495.1:p.Ala70= |