Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147492648C= , CM000669.2:g.147492648C= | GRCh38 |
| NC_000007.13:g.147189740C= , CM000669.1:g.147189740C= | GRCh37 |
| NC_000007.12:g.146820673C= | NCBI36 |
| NG_007092.2:g.1381288C= | |
| NG_007092.3:g.1381648C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1777+6607C= MANE Select | NP_054860.1:n.1777+6607C= |
| ENST00000361727.8:c.1777+6607C= MANE Select | ENSP00000354778.3:n.1777+6607C= |
| NM_014141.5:c.1777+6607C= | NP_054860.1:n.1777+6607C= |
| ENST00000361727.7:c.1777+6607C= | ENSP00000354778.3:n.1777+6607C= |
| ENST00000636870.1:n.1639+6607C= | |
| ENST00000637694.1:n.1681-3973C= | |
| ENST00000637825.1:n.1260+6607C= | |
| ENST00000638117.1:n.1680+6607C= | |
| XM_006715919.1:c.265+6607C= | XP_006715982.1:n.265+6607C= |
| XM_017011950.2:c.1777+6607C= | XP_016867439.1:n.1777+6607C= |