Linked Data
ClinVar Variation Id:
872843
ClinVar RCV Id:
RCV001093524
dbSNP Id:
rs62507322
ERepo:
CA16020966/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840516C>G , CM000674.2:g.102840516C>G | GRCh38 |
| NC_000012.11:g.103234294C>G , CM000674.1:g.103234294C>G | GRCh37 |
| NC_000012.10:g.101758424C>G | NCBI36 |
| NG_008690.1:g.82087G>C | |
| NG_008690.2:g.122895G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1200-1G>C MANE Select | ENSP00000448059.1:n.1200-1G>C | |
| ENST00000307000.7:c.1185-1G>C | ENSP00000303500.2:n.1185-1G>C | |
| ENST00000549247.6:n.959-1G>C | ||
| ENST00000551114.2:n.862-1G>C | ||
| ENST00000553106.5:c.1200-1G>C | ENSP00000448059.1:n.1200-1G>C | |
| ENST00000635477.1:c.304-1G>C | ||
| ENST00000635528.1:n.715-1G>C | ||
| NM_000277.1:c.1200-1G>C | NP_000268.1:n.1200-1G>C | |
| XM_011538422.1:c.1143-1G>C | XP_011536724.1:n.1143-1G>C | |
| NM_000277.2:c.1200-1G>C | NP_000268.1:n.1200-1G>C | |
| NM_001354304.1:c.1200-1G>C | NP_001341233.1:n.1200-1G>C | |
| NM_000277.3:c.1200-1G>C MANE Select | NP_000268.1:n.1200-1G>C | |
| NM_001354304.2:c.1200-1G>C | NP_001341233.1:n.1200-1G>C |