Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416062A= , CM000667.2:g.96416062A= | GRCh38 |
| NC_000005.9:g.95751766A= , CM000667.1:g.95751766A= | GRCh37 |
| NC_000005.8:g.95777522A= | NCBI36 |
| NG_021161.1:g.22220T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.680T= MANE Select | ENSP00000308024.2:p.Val227= | |
| ENST00000311106.7:c.680T= | ENSP00000308024.2:p.Val227= | |
| ENST00000508626.5:c.539T= | ENSP00000421600.1:p.Val180= | |
| NM_000439.4:c.680T= | NP_000430.3:p.Val227= | |
| NM_001177875.1:c.539T= | NP_001171346.1:p.Val180= | |
| NR_130776.1:n.354+36410A= | ||
| NM_000439.5:c.680T= MANE Select | NP_000430.3:p.Val227= | |
| NM_001177875.2:c.539T= | NP_001171346.1:p.Val180= |