Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81186695A= , CM000667.2:g.81186695A= | GRCh38 |
| NC_000005.9:g.80482514A= , CM000667.1:g.80482514A= | GRCh37 |
| NC_000005.8:g.80518270A= | NCBI36 |
| NG_030334.1:g.231007A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006909.3:c.2793+6414A= MANE Select | NP_008840.1:n.2793+6414A= |
| ENST00000265080.9:c.2793+6414A= MANE Select | ENSP00000265080.4:n.2793+6414A= |
| NM_006909.2:c.2793+6414A= | NP_008840.1:n.2793+6414A= |
| ENST00000265080.8:c.2793+6414A= | ENSP00000265080.4:n.2793+6414A= |
| ENST00000503795.1:c.2793+6414A= | ENSP00000421771.1:n.2793+6414A= |
| XM_017009682.2:c.2508+6414A= | XP_016865171.1:n.2508+6414A= |
| XR_002956166.1:n.2909+6414A= |