Linked Data
ClinVar Variation Id:
1693241
ClinVar RCV Id:
RCV002260500
dbSNP Id:
rs62517196
ERepo:
CA16020907/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846889A>G , CM000674.2:g.102846889A>G | GRCh38 |
| NC_000012.11:g.103240667A>G , CM000674.1:g.103240667A>G | GRCh37 |
| NC_000012.10:g.101764797A>G | NCBI36 |
| NG_008690.1:g.75714T>C | |
| NG_008690.2:g.116522T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.969+6T>C MANE Select | ENSP00000448059.1:n.969+6T>C | |
| ENST00000307000.7:c.954+6T>C | ENSP00000303500.2:n.954+6T>C | |
| ENST00000549247.6:n.728+6T>C | ||
| ENST00000551114.2:n.631+6T>C | ||
| ENST00000553106.5:c.969+6T>C | ENSP00000448059.1:n.969+6T>C | |
| ENST00000635477.1:c.74-2458T>C | ||
| ENST00000635528.1:n.484+6T>C | ||
| NM_000277.1:c.969+6T>C | NP_000268.1:n.969+6T>C | |
| XM_011538422.1:c.913-2458T>C | XP_011536724.1:n.913-2458T>C | |
| NM_000277.2:c.969+6T>C | NP_000268.1:n.969+6T>C | |
| NM_001354304.1:c.969+6T>C | NP_001341233.1:n.969+6T>C | |
| NM_000277.3:c.969+6T>C MANE Select | NP_000268.1:n.969+6T>C | |
| NM_001354304.2:c.969+6T>C | NP_001341233.1:n.969+6T>C |