Linked Data
dbSNP Id:
rs1718555088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388228C>A , CM000665.2:g.190388228C>A | GRCh38 |
| NC_000003.11:g.190106017C>A , CM000665.1:g.190106017C>A | GRCh37 |
| NC_000003.10:g.191588711C>A | NCBI36 |
| NG_008149.1:g.5177C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.-102C>A MANE Select | ENSP00000264734.3:n.-102C>A | |
| ENST00000456423.2:c.-102C>A | ENSP00000414136.2:n.-102C>A | |
| ENST00000264734.2:c.109C>A | ENSP00000264734.2:p.His37Asn | |
| ENST00000456423.1:c.109C>A | ENSP00000414136.1:p.His37Asn | |
| ENST00000468220.1:n.306+13625C>A | ||
| NM_006580.3:c.109C>A | NP_006571.1:p.His37Asn | |
| NM_001378492.1:c.-93-9C>A | NP_001365421.1:n.-93-9C>A | |
| NM_001378493.1:c.-93-9C>A | NP_001365422.1:n.-93-9C>A | |
| NM_006580.4:c.-102C>A MANE Select | NP_006571.2:n.-102C>A |