Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100540066T>A , CM000663.2:g.100540066T>A | GRCh38 |
| NC_000001.10:g.101005622T>A , CM000663.1:g.101005622T>A | GRCh37 |
| NC_000001.9:g.100778210T>A | NCBI36 |
| NG_053134.1:g.6895T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.1100T>A MANE Select | ENSP00000314223.4:p.Val367Glu | |
| ENST00000315033.4:c.1100T>A | ENSP00000314223.4:p.Val367Glu | |
| NM_022049.2:c.1100T>A | NP_071332.2:p.Val367Glu | |
| NM_022049.3:c.1100T>A MANE Select | NP_071332.2:p.Val367Glu |