Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423072C= , CM000669.2:g.94423072C= | GRCh38 |
| NC_000007.13:g.94052384C= , CM000669.1:g.94052384C= | GRCh37 |
| NC_000007.12:g.93890320C= | NCBI36 |
| NG_007405.1:g.33512C= , LRG_2:g.33512C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2519C= MANE Select | ENSP00000297268.6:p.Pro840= | |
| ENST00000297268.10:c.2519C= | ENSP00000297268.6:p.Pro840= | |
| ENST00000481570.5:n.602C= | ||
| ENST00000497316.5:n.916C= | ||
| ENST00000620463.1:c.2513C= | ENSP00000477719.1:p.Pro838= | |
| NM_000089.3:c.2519C= , LRG_2t1:c.2519C= | NP_000080.2:p.Pro840= | |
| NM_000089.4:c.2519C= MANE Select | NP_000080.2:p.Pro840= |