Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302255C= , CM000681.2:g.33302255C= | GRCh38 |
| NC_000019.9:g.33793161C= , CM000681.1:g.33793161C= | GRCh37 |
| NC_000019.8:g.38485001C= | NCBI36 |
| NG_012022.1:g.5270G= , LRG_456:g.5270G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.160G= MANE Select | ENSP00000427514.1:p.Gly54= | |
| ENST00000498907.2:c.160G= | ENSP00000427514.1:p.Gly54= | |
| NM_001285829.1:c.-198G= | NP_001272758.1:n.-198G= | |
| NM_001287424.1:c.265G= | NP_001274353.1:p.Gly89= | |
| NM_001287435.1:c.118G= | NP_001274364.1:p.Gly40= | |
| NM_004364.4:c.160G= | NP_004355.2:p.Gly54= | |
| NM_001287424.2:c.265G= | NP_001274353.1:p.Gly89= | |
| NM_004364.5:c.160G= MANE Select | NP_004355.2:p.Gly54= | |
| NM_001285829.2:c.-198G= | NP_001272758.1:n.-198G= | |
| NM_001287435.2:c.118G= | NP_001274364.1:p.Gly40= |