Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18175041C>A , CM000681.2:g.18175041C>A | GRCh38 |
| NC_000019.9:g.18285851C>A , CM000681.1:g.18285851C>A | GRCh37 |
| NC_000019.8:g.18146851C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407280.4:c.134C>A MANE Select | ENSP00000384886.1:p.Thr45Lys | |
| ENST00000407280.3:c.134C>A | ENSP00000384886.1:p.Thr45Lys | |
| ENST00000593731.1:c.*1570C>A | ENSP00000471914.1:n.*1570C>A | |
| ENST00000597802.2:c.134C>A | ENSP00000470527.2:p.Thr45Lys | |
| ENST00000600463.1:n.873C>A | ||
| NM_006332.4:c.134C>A | NP_006323.2:p.Thr45Lys | |
| NM_006332.5:c.134C>A MANE Select | NP_006323.2:p.Thr45Lys |