Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71944848A= , CM000674.2:g.71944848A= | GRCh38 |
| NC_000012.11:g.72338628A= , CM000674.1:g.72338628A= | GRCh37 |
| NC_000012.10:g.70624895A= | NCBI36 |
| NG_008279.1:g.11003A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.540+162A= MANE Select | NP_775489.2:n.540+162A= |
| ENST00000333850.4:c.540+162A= MANE Select | ENSP00000329093.3:n.540+162A= |
| NM_173353.3:c.540+162A= | NP_775489.2:n.540+162A= |
| ENST00000333850.3:c.540+162A= | ENSP00000329093.3:n.540+162A= |
| ENST00000546576.1:n.550+162A= | |
| XR_001748575.1:n.640+162A= | |
| XR_245894.2:n.640+162A= |