Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154987237C= , CM000685.2:g.154987237C= | GRCh38 |
| NC_000023.10:g.154215512C= , CM000685.1:g.154215512C= | GRCh37 |
| NC_000023.9:g.153868706C= | NCBI36 |
| NG_011403.1:g.40487G= | |
| NG_011403.2:g.40487G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.670G= MANE Select | NP_000123.1:p.Gly224= |
| ENST00000360256.9:c.670G= MANE Select | ENSP00000353393.4:p.Gly224= |
| NM_000132.3:c.670G= | NP_000123.1:p.Gly224= |
| ENST00000360256.8:c.670G= | ENSP00000353393.4:p.Gly224= |
| ENST00000423959.5:c.565G= | ENSP00000409446.1:p.Gly189= |
| ENST00000647125.1:c.*456G= | ENSP00000496062.1:n.*456G= |
| XM_011531126.1:c.565G= | XP_011529428.1:p.Gly189= |