Linked Data
ClinVar Variation Id:
303653
dbSNP Id:
rs77525858
gnomAD v2:
11-128787562-C-G
gnomAD v3:
11-128917667-C-G
gnomAD v4:
11-128917667-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128917667C>G , CM000673.2:g.128917667C>G | GRCh38 |
| NC_000011.9:g.128787562C>G , CM000673.1:g.128787562C>G | GRCh37 |
| NC_000011.8:g.128292772C>G | NCBI36 |
| NG_023406.2:g.31250C>G , LRG_333:g.31250C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.*936C>G MANE Select | ENSP00000433295.1:n.*936C>G | |
| ENST00000529694.5:c.*936C>G | ENSP00000433295.1:n.*936C>G | |
| NM_000890.3:c.*936C>G , LRG_333t1:c.*936C>G | NP_000881.3:n.*936C>G | |
| XM_011542809.1:c.*936C>G | XP_011541111.1:n.*936C>G | |
| XM_011542810.1:c.*936C>G | XP_011541112.1:n.*936C>G | |
| NM_000890.4:c.*936C>G | NP_000881.3:n.*936C>G | |
| NM_001354169.1:c.*936C>G | NP_001341098.1:n.*936C>G | |
| XM_011542809.2:c.*936C>G | XP_011541111.1:n.*936C>G | |
| NM_000890.5:c.*936C>G MANE Select | NP_000881.3:n.*936C>G | |
| NM_001354169.2:c.*936C>G | NP_001341098.1:n.*936C>G |