Linked Data
ClinVar Variation Id:
668658
dbSNP Id:
rs768355407
ExAC:
9:94830253 A / C
gnomAD v2:
9-94830253-A-C
gnomAD v3:
9-92067971-A-C
gnomAD v4:
9-92067971-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92067971A>C , CM000671.2:g.92067971A>C | GRCh38 |
| NC_000009.11:g.94830253A>C , CM000671.1:g.94830253A>C | GRCh37 |
| NC_000009.10:g.93870074A>C | NCBI36 |
| NG_007950.1:g.52438T>G , LRG_272:g.52438T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482632.6:n.965T>G | ||
| ENST00000686600.1:c.555T>G | ENSP00000509268.1:p.Val185= | |
| ENST00000686799.1:n.652T>G | ||
| ENST00000687427.1:c.555T>G | ENSP00000509426.1:p.Val185= | |
| ENST00000687817.1:c.*358T>G | ENSP00000508926.1:n.*358T>G | |
| ENST00000687972.1:c.615T>G | ENSP00000509208.1:p.Val205= | |
| ENST00000689261.1:n.462T>G | ||
| ENST00000689401.1:c.*805T>G | ENSP00000510251.1:n.*805T>G | |
| ENST00000689423.1:c.*805T>G | ENSP00000508519.1:n.*805T>G | |
| ENST00000690095.1:n.883T>G | ||
| ENST00000690139.1:c.*256T>G | ENSP00000510483.1:n.*256T>G | |
| ENST00000692458.1:n.578T>G | ||
| ENST00000693147.1:c.*571T>G | ENSP00000510358.1:n.*571T>G | |
| ENST00000262554.7:c.555T>G MANE Select | ENSP00000262554.2:p.Val185= | |
| ENST00000642671.1:c.600T>G | ENSP00000495764.1:n.600T>G | |
| ENST00000643599.1:c.427T>G | ENSP00000494770.1:n.427T>G | |
| ENST00000644140.1:c.*296T>G | ENSP00000493933.1:n.*296T>G | |
| ENST00000646481.1:c.427T>G | ENSP00000496627.1:n.427T>G | |
| ENST00000646534.1:c.*358T>G | ENSP00000495388.1:n.*358T>G | |
| ENST00000262554.6:c.555T>G | ENSP00000262554.2:p.Val185= | |
| ENST00000482632.5:n.702T>G | ||
| NM_001281303.1:c.555T>G | NP_001268232.1:p.Val185= | |
| NM_006415.3:c.555T>G | NP_006406.1:p.Val185= | |
| XM_011518138.1:c.555T>G | XP_011516440.1:p.Val185= | |
| XM_011518139.1:c.90T>G | XP_011516441.1:p.Val30= | |
| XM_011518138.2:c.555T>G | XP_011516440.1:p.Val185= | |
| XM_011518139.3:c.90T>G | XP_011516441.1:p.Val30= | |
| XM_017014200.2:c.189T>G | XP_016869689.1:p.Val63= | |
| XM_017014201.2:c.189T>G | XP_016869690.1:p.Val63= | |
| XM_024447378.1:c.90T>G | XP_024303146.1:p.Val30= | |
| XM_024447379.1:c.90T>G | XP_024303147.1:p.Val30= | |
| XR_002956744.1:n.705T>G | ||
| NM_006415.4:c.555T>G MANE Select | NP_006406.1:p.Val185= | |
| NM_001281303.2:c.555T>G | NP_001268232.1:p.Val185= | |
| NM_001368272.1:c.189T>G | NP_001355201.1:p.Val63= | |
| NM_001368273.1:c.90T>G | NP_001355202.1:p.Val30= |