Linked Data
ClinVar Variation Id:
1624987
ClinVar RCV Id:
RCV002106508
dbSNP Id:
rs780781553
ExAC:
9:94830354 G / A
gnomAD v2:
9-94830354-G-A
gnomAD v4:
9-92068072-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92068072G>A , CM000671.2:g.92068072G>A | GRCh38 |
| NC_000009.11:g.94830354G>A , CM000671.1:g.94830354G>A | GRCh37 |
| NC_000009.10:g.93870175G>A | NCBI36 |
| NG_007950.1:g.52337C>T , LRG_272:g.52337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482632.6:n.864C>T | ||
| ENST00000686600.1:c.454C>T | ENSP00000509268.1:p.Leu152= | |
| ENST00000686799.1:n.551C>T | ||
| ENST00000687427.1:c.454C>T | ENSP00000509426.1:p.Leu152= | |
| ENST00000687817.1:c.*257C>T | ENSP00000508926.1:n.*257C>T | |
| ENST00000687972.1:c.514C>T | ENSP00000509208.1:p.Leu172= | |
| ENST00000689261.1:n.361C>T | ||
| ENST00000689401.1:c.*704C>T | ENSP00000510251.1:n.*704C>T | |
| ENST00000689423.1:c.*704C>T | ENSP00000508519.1:n.*704C>T | |
| ENST00000690095.1:n.782C>T | ||
| ENST00000690139.1:c.*155C>T | ENSP00000510483.1:n.*155C>T | |
| ENST00000692458.1:n.477C>T | ||
| ENST00000693147.1:c.*470C>T | ENSP00000510358.1:n.*470C>T | |
| ENST00000262554.7:c.454C>T MANE Select | ENSP00000262554.2:p.Leu152= | |
| ENST00000642671.1:c.499C>T | ENSP00000495764.1:n.499C>T | |
| ENST00000643599.1:c.326C>T | ENSP00000494770.1:n.326C>T | |
| ENST00000644140.1:c.*195C>T | ENSP00000493933.1:n.*195C>T | |
| ENST00000646481.1:c.326C>T | ENSP00000496627.1:n.326C>T | |
| ENST00000646534.1:c.*257C>T | ENSP00000495388.1:n.*257C>T | |
| ENST00000262554.6:c.454C>T | ENSP00000262554.2:p.Leu152= | |
| ENST00000482632.5:n.601C>T | ||
| NM_001281303.1:c.454C>T | NP_001268232.1:p.Leu152= | |
| NM_006415.3:c.454C>T | NP_006406.1:p.Leu152= | |
| XM_011518138.1:c.454C>T | XP_011516440.1:p.Leu152= | |
| XM_011518139.1:c.-12C>T | XP_011516441.1:n.-12C>T | |
| XM_011518138.2:c.454C>T | XP_011516440.1:p.Leu152= | |
| XM_011518139.3:c.-12C>T | XP_011516441.1:n.-12C>T | |
| XM_017014200.2:c.88C>T | XP_016869689.1:p.Leu30= | |
| XM_017014201.2:c.88C>T | XP_016869690.1:p.Leu30= | |
| XM_024447378.1:c.-12C>T | XP_024303146.1:n.-12C>T | |
| XM_024447379.1:c.-12C>T | XP_024303147.1:n.-12C>T | |
| XR_002956744.1:n.604C>T | ||
| NM_006415.4:c.454C>T MANE Select | NP_006406.1:p.Leu152= | |
| NM_001281303.2:c.454C>T | NP_001268232.1:p.Leu152= | |
| NM_001368272.1:c.88C>T | NP_001355201.1:p.Leu30= | |
| NM_001368273.1:c.-12C>T | NP_001355202.1:n.-12C>T |