Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671059C>A , CM000670.2:g.86671059C>A | GRCh38 |
| NC_000008.10:g.87683287C>A , CM000670.1:g.87683287C>A | GRCh37 |
| NC_000008.9:g.87752403C>A | NCBI36 |
| NG_016980.1:g.77617G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.378G>T MANE Select | ENSP00000316605.5:p.Glu126Asp | |
| ENST00000680314.1:n.139G>T | ||
| ENST00000681746.1:c.378G>T | ENSP00000505959.1:p.Glu126Asp | |
| ENST00000320005.5:c.378G>T | ENSP00000316605.5:p.Glu126Asp | |
| NM_019098.4:c.378G>T | NP_061971.3:p.Glu126Asp | |
| XM_011517138.1:c.-37G>T | XP_011515440.1:n.-37G>T | |
| XM_011517138.2:c.-37G>T | XP_011515440.1:n.-37G>T | |
| NM_019098.5:c.378G>T MANE Select | NP_061971.3:p.Glu126Asp |