Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426012T= , CM000669.2:g.94426012T= | GRCh38 |
| NC_000007.13:g.94055324T= , CM000669.1:g.94055324T= | GRCh37 |
| NC_000007.12:g.93893260T= | NCBI36 |
| NG_007405.1:g.36452T= , LRG_2:g.36452T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2958T= MANE Select | NP_000080.2:p.Pro986= |
| ENST00000297268.11:c.2958T= MANE Select | ENSP00000297268.6:p.Pro986= |
| NM_000089.3:c.2958T= , LRG_2t1:c.2958T= | NP_000080.2:p.Pro986= |
| ENST00000297268.10:c.2958T= | ENSP00000297268.6:p.Pro986= |
| ENST00000478215.1:n.517T= | |
| ENST00000481570.5:n.2931T= | |
| ENST00000620463.1:c.2952T= | ENSP00000477719.1:p.Pro984= |