Linked Data
ClinVar Variation Id:
345787
ClinVar RCV Id:
RCV000407529
dbSNP Id:
rs377441767
gnomAD v3:
3-48564301-G-A
gnomAD v4:
3-48564301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48564301G>A , CM000665.2:g.48564301G>A | GRCh38 |
| NC_000003.11:g.48601734G>A , CM000665.1:g.48601734G>A | GRCh37 |
| NC_000003.10:g.48576738G>A | NCBI36 |
| NG_007065.1:g.35952C>T , LRG_286:g.35952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.*105C>T MANE Select | ENSP00000506558.1:n.*105C>T | |
| ENST00000328333.12:c.*105C>T | ENSP00000332371.8:n.*105C>T | |
| ENST00000465238.5:n.359C>T | ||
| ENST00000466591.1:n.551C>T | ||
| ENST00000470076.1:n.423C>T | ||
| ENST00000487017.5:n.5579C>T | ||
| NM_000094.3:c.*105C>T , LRG_286t1:c.*105C>T | NP_000085.1:n.*105C>T | |
| XM_011533336.1:c.*105C>T | XP_011531638.1:n.*105C>T | |
| XM_011533337.1:c.*105C>T | XP_011531639.1:n.*105C>T | |
| XM_011533338.1:c.*105C>T | XP_011531640.1:n.*105C>T | |
| XR_940369.1:n.9076C>T | ||
| XR_940370.1:n.9040C>T | ||
| XR_940371.1:n.9037C>T | ||
| XM_017005688.1:c.*105C>T | XP_016861177.1:n.*105C>T | |
| XR_001740003.1:n.9049C>T | ||
| XR_001740004.1:n.9013C>T | ||
| XR_001740005.1:n.9010C>T | ||
| NM_000094.4:c.*105C>T MANE Select | NP_000085.1:n.*105C>T |