Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053781C= , CM000663.2:g.67053781C= | GRCh38 |
| NC_000001.10:g.67519464C= , CM000663.1:g.67519464C= | GRCh37 |
| NC_000001.9:g.67292052C= | NCBI36 |
| NG_012933.1:g.5617G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.203+30G= MANE Select | ENSP00000235345.5:n.203+30G= | |
| ENST00000235345.5:c.203+30G= | ENSP00000235345.5:n.203+30G= | |
| NM_015139.2:c.203+30G= | NP_055954.1:n.203+30G= | |
| XM_006710478.1:c.203+30G= | XP_006710541.1:n.203+30G= | |
| XM_011541070.1:c.203+30G= | XP_011539372.1:n.203+30G= | |
| XM_006710478.2:c.203+30G= | XP_006710541.1:n.203+30G= | |
| XM_011541070.2:c.203+30G= | XP_011539372.1:n.203+30G= | |
| XR_001737057.2:n.613+30G= | ||
| XR_001737058.2:n.606+30G= | ||
| NM_015139.3:c.203+30G= MANE Select | NP_055954.1:n.203+30G= |