Linked Data
ClinVar Variation Id:
12002
ClinVar RCV Id:
RCV000012782
dbSNP Id:
rs587776757
ExAC:
17:41053127 A / G
gnomAD v2:
17-41053127-A-G
gnomAD v4:
17-42901110-A-G
PubMed:
PMID:8733042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901110A>G , CM000679.2:g.42901110A>G | GRCh38 |
| NC_000017.10:g.41053127A>G , CM000679.1:g.41053127A>G | GRCh37 |
| NC_000017.9:g.38306653A>G | NCBI36 |
| NG_011808.1:g.5313A>G , LRG_147:g.5313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.230+4A>G MANE Select | ENSP00000253801.1:n.230+4A>G | |
| ENST00000253801.6:c.230+4A>G | ENSP00000253801.1:n.230+4A>G | |
| ENST00000585489.1:c.230+4A>G | ENSP00000466202.1:n.230+4A>G | |
| ENST00000588481.1:n.295+4A>G | ||
| ENST00000592383.5:c.230+4A>G | ENSP00000465958.1:n.230+4A>G | |
| NM_000151.3:c.230+4A>G | NP_000142.2:n.230+4A>G | |
| NM_001270397.1:c.230+4A>G | NP_001257326.1:n.230+4A>G | |
| NM_000151.4:c.230+4A>G MANE Select | NP_000142.2:n.230+4A>G | |
| NM_001270397.2:c.230+4A>G | NP_001257326.1:n.230+4A>G |