Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062874C= , CM000664.2:g.189062874C= | GRCh38 |
| NC_000002.11:g.189927600C= , CM000664.1:g.189927600C= | GRCh37 |
| NC_000002.10:g.189635845C= | NCBI36 |
| NG_011799.1:g.122006G= | |
| NG_011799.2:g.122006G= | |
| NG_011799.3:g.167428G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1968G= MANE Select | ENSP00000364000.3:p.Val656= | |
| ENST00000374866.7:c.1968G= | ENSP00000364000.3:p.Val656= | |
| ENST00000470524.2:n.74G= | ||
| ENST00000618828.1:c.807G= | ENSP00000482184.1:p.Val269= | |
| NM_000393.3:c.1968G= | NP_000384.2:p.Val656= | |
| XM_011510573.1:c.1830G= | XP_011508875.1:p.Val610= | |
| NM_000393.4:c.1968G= | NP_000384.2:p.Val656= | |
| XM_011510573.3:c.1830G= | XP_011508875.1:p.Val610= | |
| NM_000393.5:c.1968G= MANE Select | NP_000384.2:p.Val656= |