Linked Data
ClinVar Variation Id:
862570
ClinVar RCV Id:
RCV001069317
dbSNP Id:
rs1592945607
ERepo:
CA16020965/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840517T>C , CM000674.2:g.102840517T>C | GRCh38 |
| NC_000012.11:g.103234295T>C , CM000674.1:g.103234295T>C | GRCh37 |
| NC_000012.10:g.101758425T>C | NCBI36 |
| NG_008690.1:g.82086A>G | |
| NG_008690.2:g.122894A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1200-2A>G MANE Select | ENSP00000448059.1:n.1200-2A>G | |
| ENST00000307000.7:c.1185-2A>G | ENSP00000303500.2:n.1185-2A>G | |
| ENST00000549247.6:n.959-2A>G | ||
| ENST00000551114.2:n.862-2A>G | ||
| ENST00000553106.5:c.1200-2A>G | ENSP00000448059.1:n.1200-2A>G | |
| ENST00000635477.1:c.304-2A>G | ||
| ENST00000635528.1:n.715-2A>G | ||
| NM_000277.1:c.1200-2A>G | NP_000268.1:n.1200-2A>G | |
| XM_011538422.1:c.1143-2A>G | XP_011536724.1:n.1143-2A>G | |
| NM_000277.2:c.1200-2A>G | NP_000268.1:n.1200-2A>G | |
| NM_001354304.1:c.1200-2A>G | NP_001341233.1:n.1200-2A>G | |
| NM_000277.3:c.1200-2A>G MANE Select | NP_000268.1:n.1200-2A>G | |
| NM_001354304.2:c.1200-2A>G | NP_001341233.1:n.1200-2A>G |