Linked Data
dbSNP Id:
rs1941404
gnomAD v2:
11-114169038-A-G
gnomAD v3:
11-114298316-A-G
gnomAD v4:
11-114298316-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.114298316A>G , CM000673.2:g.114298316A>G | GRCh38 |
| NC_000011.9:g.114169038A>G , CM000673.1:g.114169038A>G | GRCh37 |
| NC_000011.8:g.113674248A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713573.1:c.362+158A>G | ENSP00000518865.1:n.362+158A>G | |
| ENST00000299964.4:c.362+158A>G MANE Select | ENSP00000299964.3:n.362+158A>G | |
| ENST00000299964.3:c.362+158A>G | ENSP00000299964.3:n.362+158A>G | |
| ENST00000535401.5:c.362+158A>G | ENSP00000441434.1:n.362+158A>G | |
| ENST00000541090.1:n.188-13729A>G | ||
| ENST00000541754.1:n.244+158A>G | ||
| ENST00000542647.5:n.40+181A>G | ||
| ENST00000545255.1:n.44+122A>G | ||
| ENST00000546313.1:n.654A>G | ||
| NM_006169.2:c.362+158A>G | NP_006160.1:n.362+158A>G | |
| NM_001372045.1:c.362+158A>G | NP_001358974.1:n.362+158A>G | |
| NM_001372046.1:c.362+158A>G | NP_001358975.1:n.362+158A>G | |
| NM_001372047.1:c.362+158A>G | NP_001358976.1:n.362+158A>G | |
| NM_006169.3:c.362+158A>G MANE Select | NP_006160.1:n.362+158A>G | |
| NR_164073.1:n.581+158A>G |