Linked Data
ClinVar Variation Id:
1084242
ClinVar RCV Id:
RCV001401215
dbSNP Id:
rs567022011
gnomAD v2:
3-48606229-G-T
gnomAD v3:
3-48568796-G-T
gnomAD v4:
3-48568796-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48568796G>T , CM000665.2:g.48568796G>T | GRCh38 |
| NC_000003.11:g.48606229G>T , CM000665.1:g.48606229G>T | GRCh37 |
| NC_000003.10:g.48581233G>T | NCBI36 |
| NG_007065.1:g.31457C>A , LRG_286:g.31457C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7746C>A MANE Select | ENSP00000506558.1:p.Leu2582= | |
| ENST00000328333.12:c.7746C>A | ENSP00000332371.8:p.Leu2582= | |
| ENST00000459756.5:n.569C>A | ||
| ENST00000467985.1:n.592C>A | ||
| ENST00000487017.5:n.4385C>A | ||
| NM_000094.3:c.7746C>A , LRG_286t1:c.7746C>A | NP_000085.1:p.Leu2582= | |
| XM_011533336.1:c.7773C>A | XP_011531638.1:p.Leu2591= | |
| XM_011533337.1:c.7746C>A | XP_011531639.1:p.Leu2582= | |
| XM_011533338.1:c.7713C>A | XP_011531640.1:p.Leu2571= | |
| XM_011533339.1:c.7773C>A | XP_011531641.1:p.Leu2591= | |
| XR_940369.1:n.7809C>A | ||
| XR_940370.1:n.7809C>A | ||
| XR_940371.1:n.7809C>A | ||
| XR_940372.1:n.7783C>A | ||
| XM_017005688.1:c.7686C>A | XP_016861177.1:p.Leu2562= | |
| XM_017005689.1:c.7746C>A | XP_016861178.1:p.Leu2582= | |
| XR_001740003.1:n.7782C>A | ||
| XR_001740004.1:n.7782C>A | ||
| XR_001740005.1:n.7782C>A | ||
| XR_001740006.1:n.7756C>A | ||
| NM_000094.4:c.7746C>A MANE Select | NP_000085.1:p.Leu2582= |