Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6034818T= , CM000674.2:g.6034818T= | GRCh38 |
| NC_000012.11:g.6143984T= , CM000674.1:g.6143984T= | GRCh37 |
| NC_000012.10:g.6014245T= | NCBI36 |
| NG_009072.2:g.94853A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.2555A= MANE Select | NP_000543.3:p.Gln852= |
| ENST00000261405.10:c.2555A= MANE Select | ENSP00000261405.5:p.Gln852= |
| ENST00000261405.9:c.2555A= | ENSP00000261405.5:p.Gln852= |
| ENST00000538635.5:n.421-40884A= |