Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423082T= , CM000669.2:g.94423082T= | GRCh38 |
| NC_000007.13:g.94052394T= , CM000669.1:g.94052394T= | GRCh37 |
| NC_000007.12:g.93890330T= | NCBI36 |
| NG_007405.1:g.33522T= , LRG_2:g.33522T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2529T= MANE Select | ENSP00000297268.6:p.Ala843= | |
| ENST00000297268.10:c.2529T= | ENSP00000297268.6:p.Ala843= | |
| ENST00000481570.5:n.612T= | ||
| ENST00000497316.5:n.926T= | ||
| ENST00000620463.1:c.2523T= | ENSP00000477719.1:p.Ala841= | |
| NM_000089.3:c.2529T= , LRG_2t1:c.2529T= | NP_000080.2:p.Ala843= | |
| NM_000089.4:c.2529T= MANE Select | NP_000080.2:p.Ala843= |