Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71948408G= , CM000674.2:g.71948408G= | GRCh38 |
| NC_000012.11:g.72342188G= , CM000674.1:g.72342188G= | GRCh37 |
| NC_000012.10:g.70628455G= | NCBI36 |
| NG_008279.1:g.14563G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.541-1180G= MANE Select | ENSP00000329093.3:n.541-1180G= | |
| ENST00000333850.3:c.541-1180G= | ENSP00000329093.3:n.541-1180G= | |
| ENST00000546576.1:n.551-1180G= | ||
| NM_173353.3:c.541-1180G= | NP_775489.2:n.541-1180G= | |
| XM_011537899.1:c.-55+404G= | XP_011536201.1:n.-55+404G= | |
| XR_245894.2:n.641-1180G= | ||
| XR_001748575.1:n.641-1180G= | ||
| NM_173353.4:c.541-1180G= MANE Select | NP_775489.2:n.541-1180G= |