Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532653C>A , CM000664.2:g.102532653C>A | GRCh38 |
| NC_000002.11:g.103149112C>A , CM000664.1:g.103149112C>A | GRCh37 |
| NC_000002.10:g.102515544C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295269.5:c.2362C>A MANE Select | ENSP00000295269.4:p.His788Asn | |
| ENST00000295269.4:c.2362C>A | ENSP00000295269.4:p.His788Asn | |
| NM_001011552.3:c.2362C>A | NP_001011552.2:p.His788Asn | |
| XM_011511158.1:c.2275C>A | XP_011509460.1:p.His759Asn | |
| NM_001011552.4:c.2362C>A MANE Select | NP_001011552.2:p.His788Asn |