Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058864G= , CM000664.2:g.189058864G= | GRCh38 |
| NC_000002.11:g.189923590G= , CM000664.1:g.189923590G= | GRCh37 |
| NC_000002.10:g.189631835G= | NCBI36 |
| NG_011799.1:g.126016C= | |
| NG_011799.2:g.126016C= | |
| NG_011799.3:g.171438C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2115C= MANE Select | ENSP00000364000.3:p.Gly705= | |
| ENST00000374866.7:c.2115C= | ENSP00000364000.3:p.Gly705= | |
| ENST00000470524.2:n.221C= | ||
| ENST00000618828.1:c.954C= | ENSP00000482184.1:p.Gly318= | |
| NM_000393.3:c.2115C= | NP_000384.2:p.Gly705= | |
| XM_011510573.1:c.1977C= | XP_011508875.1:p.Gly659= | |
| NM_000393.4:c.2115C= | NP_000384.2:p.Gly705= | |
| XM_011510573.3:c.1977C= | XP_011508875.1:p.Gly659= | |
| NM_000393.5:c.2115C= MANE Select | NP_000384.2:p.Gly705= |