Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618561T>A , CM000664.2:g.233618561T>A | GRCh38 |
| NC_000002.11:g.234527207T>A , CM000664.1:g.234527207T>A | GRCh37 |
| NC_000002.10:g.234191946T>A | NCBI36 |
| NG_002601.2:g.33818T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.854T>A MANE Select | ENSP00000362549.4:p.Met285Lys | |
| ENST00000373450.4:c.854T>A | ENSP00000362549.4:p.Met285Lys | |
| NM_019076.4:c.854T>A | NP_061949.3:p.Met285Lys | |
| NM_019076.5:c.854T>A MANE Select | NP_061949.3:p.Met285Lys |