Linked Data
ClinVar Variation Id:
2900564
ClinVar RCV Id:
RCV003737204
dbSNP Id:
rs761669852
ExAC:
5:94852274 G / A
gnomAD v3:
5-95516570-G-A
gnomAD v4:
5-95516570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516570G>A , CM000667.2:g.95516570G>A | GRCh38 |
| NC_000005.9:g.94852274G>A , CM000667.1:g.94852274G>A | GRCh37 |
| NC_000005.8:g.94878030G>A | NCBI36 |
| NG_023414.1:g.43436C>T , LRG_173:g.43436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.3072C>T | ||
| ENST00000513232.2:c.*1497C>T | ENSP00000422749.2:n.*1497C>T | |
| ENST00000698450.1:n.1916C>T | ||
| ENST00000698451.1:n.2202C>T | ||
| ENST00000698452.1:n.3273C>T | ||
| ENST00000698453.1:c.2458C>T | ENSP00000513735.1:p.Pro820Ser | |
| ENST00000698454.1:c.2523C>T | ENSP00000513736.1:p.Ala841= | |
| ENST00000698455.1:c.*2758C>T | ENSP00000513737.1:n.*2758C>T | |
| ENST00000698456.1:c.*1390C>T | ENSP00000513738.1:n.*1390C>T | |
| ENST00000698457.1:c.2322C>T | ENSP00000513739.1:p.Ala774= | |
| ENST00000698458.1:c.2494C>T | ENSP00000513740.1:p.Pro832Ser | |
| ENST00000698459.1:c.2532C>T | ENSP00000513741.1:p.Ala844= | |
| ENST00000698460.1:c.*295C>T | ENSP00000513742.1:n.*295C>T | |
| ENST00000698461.1:n.2987C>T | ||
| ENST00000698462.1:n.2907C>T | ||
| ENST00000698468.1:n.3273C>T | ||
| ENST00000698469.1:c.*2129C>T | ENSP00000513743.1:n.*2129C>T | |
| ENST00000698470.1:c.*624C>T | ENSP00000513744.1:n.*624C>T | |
| ENST00000698471.1:n.3072C>T | ||
| ENST00000698472.1:c.*1497C>T | ENSP00000513745.1:n.*1497C>T | |
| ENST00000698473.1:n.3072C>T | ||
| ENST00000698474.1:n.3072C>T | ||
| ENST00000698475.1:n.3157C>T | ||
| ENST00000698476.1:c.2532C>T | ENSP00000513746.1:p.Ala844= | |
| ENST00000698477.1:c.2458C>T | ENSP00000513747.1:p.Pro820Ser | |
| ENST00000698478.1:n.3072C>T | ||
| ENST00000698479.1:c.2532C>T | ENSP00000513748.1:p.Ala844= | |
| ENST00000698480.1:c.2453C>T | ENSP00000513749.1:p.Pro818Leu | |
| ENST00000698481.1:c.2453C>T | ENSP00000513750.1:p.Pro818Leu | |
| ENST00000698482.1:n.2822C>T | ||
| ENST00000698483.1:n.2987C>T | ||
| ENST00000698484.1:c.2532C>T | ENSP00000513751.1:p.Ala844= | |
| ENST00000698485.1:c.2453C>T | ENSP00000513752.1:p.Pro818Leu | |
| ENST00000698486.1:n.3072C>T | ||
| ENST00000698487.1:c.2532C>T | ENSP00000513753.1:p.Ala844= | |
| ENST00000698488.1:c.2276C>T | ENSP00000513754.1:p.Pro759Leu | |
| ENST00000698489.1:n.6857C>T | ||
| ENST00000698490.1:c.2532C>T | ENSP00000513755.1:p.Ala844= | |
| ENST00000698492.1:c.*1247C>T | ENSP00000513756.1:n.*1247C>T | |
| ENST00000698493.1:n.2822C>T | ||
| ENST00000698494.1:c.*512C>T | ENSP00000513757.1:n.*512C>T | |
| ENST00000358746.7:c.2532C>T MANE Select | ENSP00000351596.3:p.Ala844= | |
| ENST00000649566.1:c.2532C>T | ENSP00000497948.1:p.Ala844= | |
| ENST00000358746.6:c.2532C>T | ENSP00000351596.2:p.Ala844= | |
| ENST00000506007.1:n.199C>T | ||
| ENST00000507805.5:n.804C>T | ||
| ENST00000508181.5:n.105C>T | ||
| NM_014639.3:c.2532C>T , LRG_173t1:c.2532C>T | NP_055454.1:p.Ala844= | |
| XR_948312.1:n.2801C>T | ||
| XR_001742370.2:n.2804C>T | ||
| NM_014639.4:c.2532C>T MANE Select | NP_055454.1:p.Ala844= |