Linked Data
ClinVar Variation Id:
1100054
ClinVar RCV Id:
RCV001422566
dbSNP Id:
rs780249495
ExAC:
3:48605280 C / T
gnomAD v2:
3-48605280-C-T
gnomAD v4:
3-48567847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567847C>T , CM000665.2:g.48567847C>T | GRCh38 |
| NC_000003.11:g.48605280C>T , CM000665.1:g.48605280C>T | GRCh37 |
| NC_000003.10:g.48580284C>T | NCBI36 |
| NG_007065.1:g.32406G>A , LRG_286:g.32406G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7920G>A MANE Select | ENSP00000506558.1:p.Lys2640= | |
| ENST00000328333.12:c.7920G>A | ENSP00000332371.8:p.Lys2640= | |
| ENST00000459756.5:n.743G>A | ||
| ENST00000487017.5:n.4559G>A | ||
| NM_000094.3:c.7920G>A , LRG_286t1:c.7920G>A | NP_000085.1:p.Lys2640= | |
| XM_011533336.1:c.7947G>A | XP_011531638.1:p.Lys2649= | |
| XM_011533337.1:c.7920G>A | XP_011531639.1:p.Lys2640= | |
| XM_011533338.1:c.7887G>A | XP_011531640.1:p.Lys2629= | |
| XR_940369.1:n.7983G>A | ||
| XR_940370.1:n.7983G>A | ||
| XR_940371.1:n.7983G>A | ||
| XM_017005688.1:c.7860G>A | XP_016861177.1:p.Lys2620= | |
| XR_001740003.1:n.7956G>A | ||
| XR_001740004.1:n.7956G>A | ||
| XR_001740005.1:n.7956G>A | ||
| NM_000094.4:c.7920G>A MANE Select | NP_000085.1:p.Lys2640= |