Linked Data
ClinVar Variation Id:
872842
ClinVar RCV Id:
RCV001093523
dbSNP Id:
rs62508684
ERepo:
CA16020930/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843780C>A , CM000674.2:g.102843780C>A | GRCh38 |
| NC_000012.11:g.103237558C>A , CM000674.1:g.103237558C>A | GRCh37 |
| NC_000012.10:g.101761688C>A | NCBI36 |
| NG_008690.1:g.78823G>T | |
| NG_008690.2:g.119631G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1066-1G>T MANE Select | ENSP00000448059.1:n.1066-1G>T | |
| ENST00000307000.7:c.1051-1G>T | ENSP00000303500.2:n.1051-1G>T | |
| ENST00000549247.6:n.825-1G>T | ||
| ENST00000551114.2:n.728-1G>T | ||
| ENST00000553106.5:c.1066-1G>T | ENSP00000448059.1:n.1066-1G>T | |
| ENST00000635477.1:c.170-1G>T | ||
| ENST00000635528.1:n.581-1G>T | ||
| NM_000277.1:c.1066-1G>T | NP_000268.1:n.1066-1G>T | |
| XM_011538422.1:c.1009-1G>T | XP_011536724.1:n.1009-1G>T | |
| NM_000277.2:c.1066-1G>T | NP_000268.1:n.1066-1G>T | |
| NM_001354304.1:c.1066-1G>T | NP_001341233.1:n.1066-1G>T | |
| NM_000277.3:c.1066-1G>T MANE Select | NP_000268.1:n.1066-1G>T | |
| NM_001354304.2:c.1066-1G>T | NP_001341233.1:n.1066-1G>T |