Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.35245020G= , CM000669.2:g.35245020G= | GRCh38 |
| NC_000007.13:g.35284632G= , CM000669.1:g.35284632G= | GRCh37 |
| NC_000007.12:g.35251157G= | NCBI36 |
| NG_015805.1:g.14080C= , LRG_755:g.14080C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001077653.2:c.583C= , LRG_755t1:c.583C= MANE Select | NP_001071121.1:p.Gln195= |
| ENST00000408931.4:c.583C= MANE Select | ENSP00000386170.3:p.Gln195= |
| NM_001166220.1:c.583C= | NP_001159692.1:p.Gln195= |
| ENST00000408931.3:c.583C= | ENSP00000386170.3:p.Gln195= |
| ENST00000492961.1:n.594C= | |
| XM_017012456.1:c.-15C= | XP_016867945.1:n.-15C= |