Linked Data
ClinVar Variation Id:
120298
ClinVar RCV Id:
RCV000106379
dbSNP Id:
rs202183605
gnomAD v3:
12-102844432-C-T
gnomAD v4:
12-102844432-C-T
ERepo:
CA267690/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844432C>T , CM000674.2:g.102844432C>T | GRCh38 |
| NC_000012.11:g.103238210C>T , CM000674.1:g.103238210C>T | GRCh37 |
| NC_000012.10:g.101762340C>T | NCBI36 |
| NG_008690.1:g.78171G>A | |
| NG_008690.2:g.118979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.970-1G>A MANE Select | ENSP00000448059.1:n.970-1G>A | |
| ENST00000307000.7:c.955-1G>A | ENSP00000303500.2:n.955-1G>A | |
| ENST00000549247.6:n.729-1G>A | ||
| ENST00000551114.2:n.632-1G>A | ||
| ENST00000553106.5:c.970-1G>A | ENSP00000448059.1:n.970-1G>A | |
| ENST00000635477.1:c.74-1G>A | ||
| ENST00000635528.1:n.485-1G>A | ||
| NM_000277.1:c.970-1G>A | NP_000268.1:n.970-1G>A | |
| XM_011538422.1:c.913-1G>A | XP_011536724.1:n.913-1G>A | |
| NM_000277.2:c.970-1G>A | NP_000268.1:n.970-1G>A | |
| NM_001354304.1:c.970-1G>A | NP_001341233.1:n.970-1G>A | |
| NM_000277.3:c.970-1G>A MANE Select | NP_000268.1:n.970-1G>A | |
| NM_001354304.2:c.970-1G>A | NP_001341233.1:n.970-1G>A |