Linked Data
ClinVar Variation Id:
1500300
ClinVar RCV Id:
RCV002015538
dbSNP Id:
rs753195354
ExAC:
11:89018099 A / G
gnomAD v2:
11-89018099-A-G
gnomAD v4:
11-89284931-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284931A>G , CM000673.2:g.89284931A>G | GRCh38 |
| NC_000011.9:g.89018099A>G , CM000673.1:g.89018099A>G | GRCh37 |
| NC_000011.8:g.88657747A>G | NCBI36 |
| NG_008748.1:g.112060A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1343A>G MANE Select | ENSP00000263321.4:p.Asp448Gly | |
| ENST00000263321.5:c.1343A>G | ENSP00000263321.4:p.Asp448Gly | |
| ENST00000528243.1:n.341A>G | ||
| NM_000372.4:c.1343A>G | NP_000363.1:p.Asp448Gly | |
| XM_011542970.1:c.1343A>G | XP_011541272.1:p.Asp448Gly | |
| XM_011542970.2:c.1343A>G | XP_011541272.1:p.Asp448Gly | |
| XR_001748321.1:n.2456+1103T>C | ||
| XR_001748322.1:n.2457+1103T>C | ||
| NM_000372.5:c.1343A>G MANE Select | NP_000363.1:p.Asp448Gly |