Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90917788A>G , CM000672.2:g.90917788A>G | GRCh38 |
| NC_000010.10:g.92677545A>G , CM000672.1:g.92677545A>G | GRCh37 |
| NC_000010.9:g.92667525A>G | NCBI36 |
| NG_023227.1:g.8488T>C , LRG_379:g.8488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371697.4:c.496T>C MANE Select | ENSP00000360762.3:p.Leu166= | |
| ENST00000371697.3:c.496T>C | ENSP00000360762.3:p.Leu166= | |
| NM_014391.2:c.496T>C , LRG_379t1:c.496T>C | NP_055206.2:p.Leu166= | |
| NM_014391.3:c.496T>C MANE Select | NP_055206.2:p.Leu166= |