Linked Data
ClinVar Variation Id:
156720
ClinVar RCV Id:
RCV000144844
dbSNP Id:
rs606231342
gnomAD v3:
22-38016208-G-A
gnomAD v4:
22-38016208-G-A
PubMed:
PMID:24357527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38016208G>A , CM000684.2:g.38016208G>A | GRCh38 |
| NC_000022.10:g.38412215G>A , CM000684.1:g.38412215G>A | GRCh37 |
| NC_000022.9:g.36742161G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333418.4:c.121-9661G>A | ||
| ENST00000405557.5:c.294-9371G>A | ENSP00000384112.1:n.294-9371G>A | |
| ENST00000407936.5:c.453-24860G>A | ENSP00000385725.1:n.453-24860G>A | |
| ENST00000427034.1:c.115-9661G>A | ||
| NM_001301130.1:c.453-24860G>A | NP_001288059.1:n.453-24860G>A | |
| NM_001301131.1:c.294-24860G>A | NP_001288060.1:n.294-24860G>A | |
| XR_938243.1:n.159-9661G>A | ||
| NM_001363825.1:c.*39-24860G>A | NP_001350754.1:n.*39-24860G>A | |
| NM_001301130.2:c.453-24860G>A | NP_001288059.1:n.453-24860G>A | |
| NM_001301131.2:c.294-24860G>A | NP_001288060.1:n.294-24860G>A |