Linked Data
dbSNP Id:
rs2036534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78534606T>A , CM000677.2:g.78534606T>A | GRCh38 |
| NC_000015.9:g.78826948T>A , CM000677.1:g.78826948T>A | GRCh37 |
| NC_000015.8:g.76614003T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388988.9:c.*936T>A MANE Select | ENSP00000373640.4:n.*936T>A | |
| ENST00000408962.6:c.662-2694T>A | ENSP00000386197.2:n.662-2694T>A | |
| ENST00000563233.2:c.662-2694T>A | ENSP00000454850.1:n.662-2694T>A | |
| ENST00000569878.5:c.2058T>A | ENSP00000455459.1:n.2058T>A | |
| NM_001083612.1:c.662-2694T>A | NP_001077081.1:n.662-2694T>A | |
| NM_001013619.3:c.*936T>A | NP_001013641.2:n.*936T>A | |
| NM_001013619.4:c.*936T>A MANE Select | NP_001013641.2:n.*936T>A | |
| NM_001083612.2:c.662-2694T>A | NP_001077081.1:n.662-2694T>A |