Linked Data
ClinVar Variation Id:
303655
dbSNP Id:
rs186315097
gnomAD v2:
11-128787586-G-C
gnomAD v3:
11-128917691-G-C
gnomAD v4:
11-128917691-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128917691G>C , CM000673.2:g.128917691G>C | GRCh38 |
| NC_000011.9:g.128787586G>C , CM000673.1:g.128787586G>C | GRCh37 |
| NC_000011.8:g.128292796G>C | NCBI36 |
| NG_023406.2:g.31274G>C , LRG_333:g.31274G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.*960G>C MANE Select | ENSP00000433295.1:n.*960G>C | |
| ENST00000529694.5:c.*960G>C | ENSP00000433295.1:n.*960G>C | |
| NM_000890.3:c.*960G>C , LRG_333t1:c.*960G>C | NP_000881.3:n.*960G>C | |
| XM_011542809.1:c.*960G>C | XP_011541111.1:n.*960G>C | |
| XM_011542810.1:c.*960G>C | XP_011541112.1:n.*960G>C | |
| NM_000890.4:c.*960G>C | NP_000881.3:n.*960G>C | |
| NM_001354169.1:c.*960G>C | NP_001341098.1:n.*960G>C | |
| XM_011542809.2:c.*960G>C | XP_011541111.1:n.*960G>C | |
| NM_000890.5:c.*960G>C MANE Select | NP_000881.3:n.*960G>C | |
| NM_001354169.2:c.*960G>C | NP_001341098.1:n.*960G>C |