Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527666T>A , CM000673.2:g.102527666T>A | GRCh38 |
| NC_000011.9:g.102398397T>A , CM000673.1:g.102398397T>A | GRCh37 |
| NC_000011.8:g.101903607T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.342A>T MANE Select | ENSP00000260227.4:p.Val114= | |
| ENST00000260227.4:c.342A>T | ENSP00000260227.4:p.Val114= | |
| ENST00000531200.1:n.389A>T | ||
| ENST00000533366.5:n.392A>T | ||
| NM_002423.3:c.342A>T | NP_002414.1:p.Val114= | |
| NM_002423.4:c.342A>T | NP_002414.1:p.Val114= | |
| NM_002423.5:c.342A>T MANE Select | NP_002414.1:p.Val114= |