Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147491455T= , CM000669.2:g.147491455T= | GRCh38 |
| NC_000007.13:g.147188547T= , CM000669.1:g.147188547T= | GRCh37 |
| NC_000007.12:g.146819480T= | NCBI36 |
| NG_007092.2:g.1380095T= | |
| NG_007092.3:g.1380455T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1777+5414T= MANE Select | ENSP00000354778.3:n.1777+5414T= | |
| ENST00000636870.1:n.1639+5414T= | ||
| ENST00000637694.1:n.1681-5166T= | ||
| ENST00000637825.1:n.1260+5414T= | ||
| ENST00000638117.1:n.1680+5414T= | ||
| ENST00000361727.7:c.1777+5414T= | ENSP00000354778.3:n.1777+5414T= | |
| NM_014141.5:c.1777+5414T= | NP_054860.1:n.1777+5414T= | |
| XM_006715919.1:c.265+5414T= | XP_006715982.1:n.265+5414T= | |
| XM_017011950.2:c.1777+5414T= | XP_016867439.1:n.1777+5414T= | |
| NM_014141.6:c.1777+5414T= MANE Select | NP_054860.1:n.1777+5414T= |