Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814245G= , CM000664.2:g.218814245G= | GRCh38 |
| NC_000002.11:g.219678968G= , CM000664.1:g.219678968G= | GRCh37 |
| NC_000002.10:g.219387212G= | NCBI36 |
| NG_007959.1:g.37497G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1184+58G= MANE Select | ENSP00000258415.4:n.1184+58G= | |
| ENST00000258415.8:c.1184+58G= | ENSP00000258415.4:n.1184+58G= | |
| ENST00000494263.5:n.1676G= | ||
| NM_000784.3:c.1184+58G= | NP_000775.1:n.1184+58G= | |
| XM_017003488.2:c.764+58G= | XP_016858977.1:n.764+58G= | |
| NM_000784.4:c.1184+58G= MANE Select | NP_000775.1:n.1184+58G= |