Linked Data
ClinVar Variation Id:
1260
dbSNP Id:
rs78635798
ExAC:
11:65487856 G / A
gnomAD v2:
11-65487856-G-A
gnomAD v3:
11-65720385-G-A
gnomAD v4:
11-65720385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720385G>A , CM000673.2:g.65720385G>A | GRCh38 |
| NC_000011.9:g.65487856G>A , CM000673.1:g.65487856G>A | GRCh37 |
| NC_000011.8:g.65244432G>A | NCBI36 |
| NG_008976.2:g.5554C>T , LRG_280:g.5554C>T | |
| NG_033057.1:g.13384G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.205C>T MANE Select | ENSP00000308193.5:p.Arg69Trp | |
| ENST00000528220.2:n.434C>T | ||
| ENST00000531596.6:c.205C>T | ENSP00000435717.2:p.Arg69Trp | |
| ENST00000534482.6:c.205C>T | ENSP00000432081.2:p.Arg69Trp | |
| ENST00000642430.1:n.98C>T | ||
| ENST00000643214.1:n.202C>T | ||
| ENST00000644142.1:c.205C>T | ENSP00000493695.1:p.Arg69Trp | |
| ENST00000644198.1:n.102C>T | ||
| ENST00000646597.1:n.142C>T | ||
| ENST00000308418.8:c.205C>T | ENSP00000308193.4:p.Arg69Trp | |
| ENST00000527610.1:c.205C>T | ENSP00000432897.1:p.Arg69Trp | |
| ENST00000528220.1:c.-45C>T | ENSP00000431555.1:n.-45C>T | |
| ENST00000530192.1:n.245C>T | ||
| ENST00000531596.5:c.186C>T | ||
| ENST00000533698.5:c.84C>T | ||
| ENST00000534482.5:c.99C>T | ||
| NM_032193.3:c.205C>T , LRG_280t1:c.205C>T | NP_115569.2:p.Arg69Trp | |
| NM_032193.4:c.205C>T MANE Select | NP_115569.2:p.Arg69Trp |