Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.134063193G= , CM000669.2:g.134063193G= | GRCh38 |
| NC_000007.13:g.133747946G= , CM000669.1:g.133747946G= | GRCh37 |
| NC_000007.12:g.133398486G= | NCBI36 |
| NG_047176.1:g.815127G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021807.4:c.2688-1098G= MANE Select | NP_068579.3:n.2688-1098G= |
| ENST00000253861.5:c.2688-1098G= MANE Select | ENSP00000253861.4:n.2688-1098G= |
| NM_021807.3:c.2688-1098G= | NP_068579.3:n.2688-1098G= |
| ENST00000253861.4:c.2688-1098G= | ENSP00000253861.4:n.2688-1098G= |
| ENST00000459626.1:n.425-1098G= | |
| ENST00000466000.1:n.236-1098G= | |
| XM_017012494.2:c.1518-1098G= | XP_016867983.1:n.1518-1098G= |
| XR_001744845.2:n.2715-1098G= |