Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218559G= , CM000676.2:g.93218559G= | GRCh38 |
| NC_000014.8:g.93684905G= , CM000676.1:g.93684905G= | GRCh37 |
| NC_000014.7:g.92754658G= | NCBI36 |
| NG_051089.1:g.16504G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.634G= MANE Select | ENSP00000013070.6:p.Val212= | |
| ENST00000013070.10:c.634G= | ENSP00000013070.6:p.Val212= | |
| ENST00000416753.5:c.406G= | ENSP00000391706.2:p.Val136= | |
| ENST00000553674.1:c.*335G= | ENSP00000450470.1:n.*335G= | |
| ENST00000553857.5:c.378+3278G= | ||
| ENST00000556871.5:c.343G= | ENSP00000451022.1:p.Val115= | |
| ENST00000557048.1:n.543G= | ||
| NM_175748.3:c.634G= | NP_786924.2:p.Val212= | |
| NR_038150.1:n.736G= | ||
| NM_175748.4:c.634G= MANE Select | NP_786924.2:p.Val212= | |
| NR_038150.2:n.536G= |