Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302355C= , CM000681.2:g.33302355C= | GRCh38 |
| NC_000019.9:g.33793261C= , CM000681.1:g.33793261C= | GRCh37 |
| NC_000019.8:g.38485101C= | NCBI36 |
| NG_012022.1:g.5170G= , LRG_456:g.5170G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.60G= MANE Select | ENSP00000427514.1:p.Gln20= | |
| ENST00000498907.2:c.60G= | ENSP00000427514.1:p.Gln20= | |
| NM_001285829.1:c.-298G= | NP_001272758.1:n.-298G= | |
| NM_001287424.1:c.165G= | NP_001274353.1:p.Gln55= | |
| NM_001287435.1:c.18G= | NP_001274364.1:p.Gln6= | |
| NM_004364.4:c.60G= | NP_004355.2:p.Gln20= | |
| NM_001287424.2:c.165G= | NP_001274353.1:p.Gln55= | |
| NM_004364.5:c.60G= MANE Select | NP_004355.2:p.Gln20= | |
| NM_001285829.2:c.-298G= | NP_001272758.1:n.-298G= | |
| NM_001287435.2:c.18G= | NP_001274364.1:p.Gln6= |