Linked Data
ClinVar Variation Id:
2672480
ClinVar RCV Id:
RCV003456787
dbSNP Id:
rs371040611
ExAC:
11:88911948 A / G
gnomAD v2:
11-88911948-A-G
gnomAD v3:
11-89178780-A-G
gnomAD v4:
11-89178780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178780A>G , CM000673.2:g.89178780A>G | GRCh38 |
| NC_000011.9:g.88911948A>G , CM000673.1:g.88911948A>G | GRCh37 |
| NC_000011.8:g.88551596A>G | NCBI36 |
| NG_008748.1:g.5909A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.819+8A>G MANE Select | ENSP00000263321.4:n.819+8A>G | |
| ENST00000263321.5:c.819+8A>G | ENSP00000263321.4:n.819+8A>G | |
| ENST00000526139.1:n.880+8A>G | ||
| NM_000372.4:c.819+8A>G | NP_000363.1:n.819+8A>G | |
| XM_011542970.1:c.819+8A>G | XP_011541272.1:n.819+8A>G | |
| XM_011542970.2:c.819+8A>G | XP_011541272.1:n.819+8A>G | |
| XR_001748321.1:n.2718-65247T>C | ||
| XR_001748322.1:n.2733-65247T>C | ||
| NM_000372.5:c.819+8A>G MANE Select | NP_000363.1:n.819+8A>G |