Linked Data
ClinVar Variation Id:
299352
dbSNP Id:
rs111644764
gnomAD v2:
10-16866881-G-T
gnomAD v3:
10-16824882-G-T
gnomAD v4:
10-16824882-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16824882G>T , CM000672.2:g.16824882G>T | GRCh38 |
| NC_000010.10:g.16866881G>T , CM000672.1:g.16866881G>T | GRCh37 |
| NC_000010.9:g.16906887G>T | NCBI36 |
| NG_008967.1:g.309936C>A , LRG_540:g.309936C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.*93C>A MANE Select | ENSP00000367064.4:n.*93C>A | |
| ENST00000377833.8:c.*93C>A | ENSP00000367064.4:n.*93C>A | |
| NM_001081.3:c.*93C>A , LRG_540t1:c.*93C>A | NP_001072.2:n.*93C>A | |
| XM_011519709.1:c.*93C>A | XP_011518011.1:n.*93C>A | |
| XM_011519710.1:c.*93C>A | XP_011518012.1:n.*93C>A | |
| XM_011519711.1:c.*93C>A | XP_011518013.1:n.*93C>A | |
| XM_011519709.2:c.*93C>A | XP_011518011.1:n.*93C>A | |
| XM_011519710.2:c.*93C>A | XP_011518012.1:n.*93C>A | |
| XM_011519711.3:c.*93C>A | XP_011518013.1:n.*93C>A | |
| NM_001081.4:c.*93C>A MANE Select | NP_001072.2:n.*93C>A |