Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55040022C= , CM000663.2:g.55040022C= | GRCh38 |
| NC_000001.10:g.55505695C= , CM000663.1:g.55505695C= | GRCh37 |
| NC_000001.9:g.55278283C= | NCBI36 |
| NG_009061.1:g.5476C= , LRG_275:g.5476C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.185C= MANE Select | NP_777596.2:p.Ala62= |
| ENST00000302118.5:c.185C= MANE Select | ENSP00000303208.5:p.Ala62= |
| NM_174936.3:c.185C= , LRG_275t1:c.185C= | NP_777596.2:p.Ala62= |
| ENST00000673726.1:c.185C= | ENSP00000501004.1:p.Ala62= |
| ENST00000673913.2:c.185C= | ENSP00000501161.2:p.Ala62= |
| ENST00000710286.1:c.542C= | ENSP00000518176.1:p.Ala181= |