Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433880A>T , CM000674.2:g.52433880A>T | GRCh38 |
| NC_000012.11:g.52827664A>T , CM000674.1:g.52827664A>T | GRCh37 |
| NC_000012.10:g.51113931A>T | NCBI36 |
| NG_008403.1:g.5447T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.425T>A MANE Select | ENSP00000252245.5:p.Ile142Asn | |
| ENST00000252245.5:c.425T>A | ENSP00000252245.5:p.Ile142Asn | |
| NM_004693.2:c.425T>A | NP_004684.2:p.Ile142Asn | |
| NM_004693.3:c.425T>A MANE Select | NP_004684.2:p.Ile142Asn |