Linked Data
ClinVar Variation Id:
143996
dbSNP Id:
rs3136516
gnomAD v2:
11-46760756-G-A
gnomAD v3:
11-46739206-G-A
gnomAD v4:
11-46739206-G-A
PubMed:
PMID:20301327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46739206G>A , CM000673.2:g.46739206G>A | GRCh38 |
| NC_000011.9:g.46760756G>A , CM000673.1:g.46760756G>A | GRCh37 |
| NC_000011.8:g.46717332G>A | NCBI36 |
| NG_008953.1:g.25014G>A , LRG_551:g.25014G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311907.10:c.1726-59G>A MANE Select | ENSP00000308541.5:n.1726-59G>A | |
| ENST00000311907.9:c.1726-59G>A | ENSP00000308541.5:n.1726-59G>A | |
| ENST00000530231.5:c.1609-59G>A | ENSP00000433907.1:n.1609-59G>A | |
| NM_000506.3:c.1726-59G>A | NP_000497.1:n.1726-59G>A | |
| NM_000506.4:c.1726-59G>A , LRG_551t1:c.1726-59G>A | NP_000497.1:n.1726-59G>A | |
| NM_001311257.1:c.1678-59G>A | NP_001298186.1:n.1678-59G>A | |
| XR_428840.2:n.1588-59G>A | ||
| XR_428840.4:n.1579-59G>A | ||
| NM_000506.5:c.1726-59G>A MANE Select | NP_000497.1:n.1726-59G>A | |
| NM_001311257.2:c.1678-59G>A | NP_001298186.1:n.1678-59G>A |