Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189043249C= , CM000664.2:g.189043249C= | GRCh38 |
| NC_000002.11:g.189907975C= , CM000664.1:g.189907975C= | GRCh37 |
| NC_000002.10:g.189616220C= | NCBI36 |
| NG_011799.1:g.141631G= | |
| NG_011799.2:g.141631G= | |
| NG_011799.3:g.187053G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.3373G= MANE Select | NP_000384.2:p.Gly1125= |
| ENST00000374866.9:c.3373G= MANE Select | ENSP00000364000.3:p.Gly1125= |
| NM_000393.3:c.3373G= | NP_000384.2:p.Gly1125= |
| NM_000393.4:c.3373G= | NP_000384.2:p.Gly1125= |
| ENST00000374866.7:c.3373G= | ENSP00000364000.3:p.Gly1125= |
| ENST00000618828.1:c.2212G= | ENSP00000482184.1:p.Gly738= |
| XM_011510573.1:c.3235G= | XP_011508875.1:p.Gly1079= |
| XM_011510573.3:c.3235G= | XP_011508875.1:p.Gly1079= |