Linked Data
ClinVar Variation Id:
224022
ClinVar RCV Id:
RCV000208911
dbSNP Id:
rs191217645
gnomAD v2:
18-48569972-A-G
gnomAD v3:
18-51043602-A-G
gnomAD v4:
18-51043602-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51043602A>G , CM000680.2:g.51043602A>G | GRCh38 |
| NC_000018.9:g.48569972A>G , CM000680.1:g.48569972A>G | GRCh37 |
| NC_000018.8:g.46823970A>G | NCBI36 |
| NG_013013.2:g.80563A>G , LRG_318:g.80563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.-127-3318A>G | ENSP00000465878.2:n.-127-3318A>G | |
| ENST00000589076.6:c.-127-3318A>G | ENSP00000466934.2:n.-127-3318A>G | |
| ENST00000589941.2:c.-292-1285A>G | ENSP00000465874.2:n.-292-1285A>G | |
| ENST00000590061.2:c.-59-3386A>G | ENSP00000464772.2:n.-59-3386A>G | |
| ENST00000593223.2:c.-127-3318A>G | ENSP00000466118.2:n.-127-3318A>G | |
| ENST00000342988.8:c.-127-3318A>G MANE Select | ENSP00000341551.3:n.-127-3318A>G | |
| ENST00000342988.7:c.-127-3318A>G | ENSP00000341551.3:n.-127-3318A>G | |
| ENST00000398417.6:c.-127-3318A>G | ENSP00000381452.1:n.-127-3318A>G | |
| ENST00000588256.1:n.335-3318A>G | ||
| ENST00000588860.5:c.-127-3318A>G | ENSP00000465878.1:n.-127-3318A>G | |
| ENST00000589076.5:c.-127-3318A>G | ENSP00000466934.1:n.-127-3318A>G | |
| ENST00000590061.1:c.-59-3386A>G | ENSP00000464772.1:n.-59-3386A>G | |
| ENST00000590722.2:c.158-3318A>G | ENSP00000465737.1:n.158-3318A>G | |
| ENST00000591914.5:c.-127-3318A>G | ENSP00000466941.1:n.-127-3318A>G | |
| ENST00000592911.5:n.28-5084A>G | ||
| NM_005359.5:c.-127-3318A>G , LRG_318t1:c.-127-3318A>G | NP_005350.1:n.-127-3318A>G | |
| NM_005359.6:c.-127-3318A>G MANE Select | NP_005350.1:n.-127-3318A>G |