Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544169A= , CM000679.2:g.42544169A= | GRCh38 |
| NC_000017.10:g.40696187A= , CM000679.1:g.40696187A= | GRCh37 |
| NC_000017.9:g.37949713A= | NCBI36 |
| NG_011552.1:g.13237A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2163A= MANE Select | ENSP00000225927.1:p.Gly721= | |
| ENST00000225927.6:c.2163A= | ENSP00000225927.1:p.Gly721= | |
| NM_000263.3:c.2163A= | NP_000254.2:p.Gly721= | |
| XM_006721920.2:c.1332A= | XP_006721983.1:p.Gly444= | |
| XM_011524840.1:c.1164A= | XP_011523142.1:p.Gly388= | |
| XM_017024687.1:c.1332A= | XP_016880176.1:p.Gly444= | |
| XM_024450771.1:c.2220A= | XP_024306539.1:p.Gly740= | |
| XM_024450772.1:c.1164A= | XP_024306540.1:p.Gly388= | |
| NM_000263.4:c.2163A= MANE Select | NP_000254.2:p.Gly721= |