Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426517T= , CM000669.2:g.94426517T= | GRCh38 |
| NC_000007.13:g.94055829T= , CM000669.1:g.94055829T= | GRCh37 |
| NC_000007.12:g.93893765T= | NCBI36 |
| NG_007405.1:g.36957T= , LRG_2:g.36957T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3092T= MANE Select | ENSP00000297268.6:p.Leu1031= | |
| ENST00000297268.10:c.3092T= | ENSP00000297268.6:p.Leu1031= | |
| ENST00000478215.1:n.651T= | ||
| ENST00000481570.5:n.3065T= | ||
| ENST00000488121.1:n.8T= | ||
| ENST00000620463.1:c.3086T= | ENSP00000477719.1:p.Leu1029= | |
| NM_000089.3:c.3092T= , LRG_2t1:c.3092T= | NP_000080.2:p.Leu1031= | |
| NM_000089.4:c.3092T= MANE Select | NP_000080.2:p.Leu1031= |