Linked Data
ClinVar Variation Id:
345797
ClinVar RCV Id:
RCV002520142
dbSNP Id:
rs761592627
ExAC:
3:48604173 G / A
gnomAD v2:
3-48604173-G-A
gnomAD v3:
3-48566740-G-A
gnomAD v4:
3-48566740-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48566740G>A , CM000665.2:g.48566740G>A | GRCh38 |
| NC_000003.11:g.48604173G>A , CM000665.1:g.48604173G>A | GRCh37 |
| NC_000003.10:g.48579177G>A | NCBI36 |
| NG_007065.1:g.33513C>T , LRG_286:g.33513C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.8227-3C>T MANE Select | ENSP00000506558.1:n.8227-3C>T | |
| ENST00000328333.12:c.8227-3C>T | ENSP00000332371.8:n.8227-3C>T | |
| ENST00000474432.1:n.624C>T | ||
| ENST00000487017.5:n.4866-3C>T | ||
| NM_000094.3:c.8227-3C>T , LRG_286t1:c.8227-3C>T | NP_000085.1:n.8227-3C>T | |
| XM_011533336.1:c.8254-3C>T | XP_011531638.1:n.8254-3C>T | |
| XM_011533337.1:c.8227-3C>T | XP_011531639.1:n.8227-3C>T | |
| XM_011533338.1:c.8194-3C>T | XP_011531640.1:n.8194-3C>T | |
| XR_940369.1:n.8290-3C>T | ||
| XR_940370.1:n.8290-3C>T | ||
| XR_940371.1:n.8290-3C>T | ||
| XM_017005688.1:c.8167-3C>T | XP_016861177.1:n.8167-3C>T | |
| XR_001740003.1:n.8263-3C>T | ||
| XR_001740004.1:n.8263-3C>T | ||
| XR_001740005.1:n.8263-3C>T | ||
| NM_000094.4:c.8227-3C>T MANE Select | NP_000085.1:n.8227-3C>T |