Linked Data
ClinVar Variation Id:
299340
ClinVar RCV Id:
RCV000300545
dbSNP Id:
rs376727720
gnomAD v2:
10-16866645-G-A
gnomAD v3:
10-16824646-G-A
gnomAD v4:
10-16824646-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16824646G>A , CM000672.2:g.16824646G>A | GRCh38 |
| NC_000010.10:g.16866645G>A , CM000672.1:g.16866645G>A | GRCh37 |
| NC_000010.9:g.16906651G>A | NCBI36 |
| NG_008967.1:g.310172C>T , LRG_540:g.310172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.*329C>T MANE Select | ENSP00000367064.4:n.*329C>T | |
| ENST00000377833.8:c.*329C>T | ENSP00000367064.4:n.*329C>T | |
| NM_001081.3:c.*329C>T , LRG_540t1:c.*329C>T | NP_001072.2:n.*329C>T | |
| XM_011519709.1:c.*329C>T | XP_011518011.1:n.*329C>T | |
| XM_011519710.1:c.*329C>T | XP_011518012.1:n.*329C>T | |
| XM_011519711.1:c.*329C>T | XP_011518013.1:n.*329C>T | |
| XM_011519709.2:c.*329C>T | XP_011518011.1:n.*329C>T | |
| XM_011519710.2:c.*329C>T | XP_011518012.1:n.*329C>T | |
| XM_011519711.3:c.*329C>T | XP_011518013.1:n.*329C>T | |
| NM_001081.4:c.*329C>T MANE Select | NP_001072.2:n.*329C>T |