Linked Data
ClinVar Variation Id:
103349
ClinVar RCV Id:
RCV000089609
dbSNP Id:
rs199475888
gnomAD v3:
11-7070262-A-G
gnomAD v4:
11-7070262-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7070262A>G , CM000673.2:g.7070262A>G | GRCh38 |
| NC_000011.9:g.7091493A>G , CM000673.1:g.7091493A>G | GRCh37 |
| NC_000011.8:g.7048069A>G | NCBI36 |
| NG_046900.1:g.54817A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299481.5:c.2976-24A>G MANE Select | ENSP00000299481.5:n.2976-24A>G | |
| ENST00000299481.4:c.2976-24A>G | ENSP00000299481.4:n.2976-24A>G | |
| NM_176822.3:c.2976-24A>G | NP_789792.1:n.2976-24A>G | |
| XM_011520044.1:c.2805-24A>G | XP_011518346.1:n.2805-24A>G | |
| XM_011520045.1:c.2805-24A>G | XP_011518347.1:n.2805-24A>G | |
| NM_176822.4:c.2976-24A>G MANE Select | NP_789792.1:n.2976-24A>G |