Linked Data
ClinVar Variation Id:
55795
dbSNP Id:
rs181589369
ExAC:
11:119145682 A / G
gnomAD v2:
11-119145682-A-G
gnomAD v3:
11-119274972-A-G
gnomAD v4:
11-119274972-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119274972A>G , CM000673.2:g.119274972A>G | GRCh38 |
| NC_000011.9:g.119145682A>G , CM000673.1:g.119145682A>G | GRCh37 |
| NC_000011.8:g.118650892A>G | NCBI36 |
| NG_016808.1:g.73693A>G , LRG_608:g.73693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*321+19A>G | ENSP00000515005.1:n.*321+19A>G | |
| ENST00000264033.6:c.869+19A>G MANE Select | ENSP00000264033.3:n.869+19A>G | |
| ENST00000637974.1:c.863+19A>G | ENSP00000490763.1:n.863+19A>G | |
| ENST00000264033.5:c.869+19A>G | ENSP00000264033.3:n.869+19A>G | |
| ENST00000634586.1:c.869+19A>G | ENSP00000489218.1:n.869+19A>G | |
| ENST00000634840.1:c.869+19A>G | ENSP00000489324.1:n.869+19A>G | |
| NM_005188.3:c.869+19A>G , LRG_608t1:c.869+19A>G | NP_005179.2:n.869+19A>G | |
| XM_011543057.1:c.869+19A>G | XP_011541359.1:n.869+19A>G | |
| NM_005188.4:c.869+19A>G MANE Select | NP_005179.2:n.869+19A>G |