Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5015155C>T , CM000666.2:g.5015155C>T | GRCh38 |
| NC_000004.11:g.5016882C>T , CM000666.1:g.5016882C>T | GRCh37 |
| NC_000004.10:g.5067783C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018659.3:c.407G>A MANE Select | NP_061129.1:p.Arg136His |
| ENST00000307746.9:c.407G>A MANE Select | ENSP00000303550.4:p.Arg136His |
| NM_018659.2:c.407G>A | NP_061129.1:p.Arg136His |
| ENST00000307746.8:c.407G>A | ENSP00000303550.4:p.Arg136His |
| ENST00000506508.1:c.225G>A | |
| ENST00000509419.1:c.274G>A | |
| XM_017008299.1:c.*57G>A | XP_016863788.1:n.*57G>A |
| XR_925085.1:n.149-4768C>T | |
| XR_925086.1:n.149-4768C>T | |
| XR_925087.1:n.149-4768C>T |