Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411015A>T , CM000677.2:g.48411015A>T | GRCh38 |
| NC_000015.9:g.48703212A>T , CM000677.1:g.48703212A>T | GRCh37 |
| NC_000015.8:g.46490504A>T | NCBI36 |
| NG_008805.2:g.239774T>A , LRG_778:g.239774T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1399T>A | ENSP00000453958.2:n.*1399T>A | |
| ENST00000682158.1:n.1972T>A | ||
| ENST00000682170.1:n.2772T>A | ||
| ENST00000682767.1:n.1888T>A | ||
| ENST00000316623.10:c.8591T>A MANE Select | ENSP00000325527.5:p.Met2864Lys | |
| ENST00000316623.9:c.8591T>A | ENSP00000325527.5:p.Met2864Lys | |
| ENST00000559133.5:c.3960T>A | ||
| NM_000138.4:c.8591T>A , LRG_778t1:c.8591T>A | NP_000129.3:p.Met2864Lys | |
| NM_000138.5:c.8591T>A MANE Select | NP_000129.3:p.Met2864Lys |