Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953790A>T , CM000670.2:g.24953790A>T | GRCh38 |
| NC_000008.10:g.24811304A>T , CM000670.1:g.24811304A>T | GRCh37 |
| NC_000008.9:g.24867221A>T | NCBI36 |
| NG_008492.1:g.7828T>A , LRG_259:g.7828T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.1175T>A MANE Select | ENSP00000482169.2:p.Leu392His | |
| ENST00000610854.1:c.1175T>A | ENSP00000482169.1:p.Leu392His | |
| ENST00000619417.1:c.*40T>A | ENSP00000483690.1:n.*40T>A | |
| NM_006158.4:c.1175T>A , LRG_259t1:c.1175T>A | NP_006149.2:p.Leu392His | |
| NM_006158.5:c.1175T>A MANE Select | NP_006149.2:p.Leu392His |