Linked Data
ClinVar Variation Id:
189125
ClinVar RCV Id:
RCV000169540
dbSNP Id:
rs161380
gnomAD v2:
17-3504326-A-G
gnomAD v3:
17-3601032-A-G
gnomAD v4:
17-3601032-A-G
PubMed:
PMID:21546516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3601032A>G , CM000679.2:g.3601032A>G | GRCh38 |
| NC_000017.10:g.3504326A>G , CM000679.1:g.3504326A>G | GRCh37 |
| NC_000017.9:g.3451075A>G | NCBI36 |
| NG_029716.1:g.13380T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000572705.2:c.-34+7395T>C MANE Select | ENSP00000459962.1:n.-34+7395T>C | |
| ENST00000572705.1:c.-34+7395T>C | ENSP00000459962.1:n.-34+7395T>C | |
| ENST00000572919.1:c.*1251+8277T>C | ENSP00000461416.1:n.*1251+8277T>C | |
| NM_080704.3:c.-34+7395T>C | NP_542435.2:n.-34+7395T>C | |
| NM_080704.4:c.-34+7395T>C MANE Select | NP_542435.2:n.-34+7395T>C |