Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001328A= , CM000674.2:g.107001328A= | GRCh38 |
| NC_000012.11:g.107395106A= , CM000674.1:g.107395106A= | GRCh37 |
| NC_000012.10:g.105919236A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004075.5:c.636T= MANE Select | NP_004066.1:p.Gly212= |
| ENST00000008527.10:c.636T= MANE Select | ENSP00000008527.5:p.Gly212= |
| NM_004075.4:c.636T= | NP_004066.1:p.Gly212= |
| ENST00000008527.9:c.636T= | ENSP00000008527.5:p.Gly212= |
| ENST00000546722.1:n.129T= | |
| ENST00000552790.5:n.1195T= | |
| XM_011537939.1:c.552T= | XP_011536241.1:p.Gly184= |
| XM_017018832.2:c.552T= | XP_016874321.1:p.Gly184= |
| XM_024448844.1:c.636T= | XP_024304612.1:p.Gly212= |
| XM_024448845.1:c.552T= | XP_024304613.1:p.Gly184= |