Linked Data
ClinVar Variation Id:
558463
dbSNP Id:
rs755028771
ExAC:
7:117304842 G / T
gnomAD v2:
7-117304842-G-T
gnomAD v3:
7-117664788-G-T
gnomAD v4:
7-117664788-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664788G>T , CM000669.2:g.117664788G>T | GRCh38 |
| NC_000007.13:g.117304842G>T , CM000669.1:g.117304842G>T | GRCh37 |
| NC_000007.12:g.117092078G>T | NCBI36 |
| NG_016465.4:g.204005G>T , LRG_663:g.204005G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*273G>T | ENSP00000497673.2:n.*273G>T | |
| ENST00000647978.2:c.*3778G>T | ENSP00000497658.1:n.*3778G>T | |
| ENST00000649781.2:c.3881G>T | ENSP00000497203.1:p.Cys1294Phe | |
| ENST00000685018.2:c.*277G>T | ENSP00000510194.2:n.*277G>T | |
| ENST00000687278.2:c.*717G>T | ENSP00000509593.2:n.*717G>T | |
| ENST00000699585.1:c.*273G>T | ENSP00000514456.1:n.*273G>T | |
| ENST00000699598.1:c.4064G>T | ENSP00000514467.1:p.Cys1355Phe | |
| ENST00000699599.1:c.*277G>T | ENSP00000514468.1:n.*277G>T | |
| ENST00000699600.1:c.*725G>T | ENSP00000514469.1:n.*725G>T | |
| ENST00000699601.1:c.*2439G>T | ENSP00000514470.1:n.*2439G>T | |
| ENST00000699602.1:c.4058G>T | ENSP00000514471.1:p.Cys1353Phe | |
| ENST00000699604.1:c.*3888G>T | ENSP00000514472.1:n.*3888G>T | |
| ENST00000699605.1:c.3638G>T | ENSP00000514473.1:p.Cys1213Phe | |
| ENST00000699606.1:n.2232G>T | ||
| ENST00000685018.1:c.928G>T | ENSP00000510194.1:n.928G>T | |
| ENST00000687278.1:c.1851G>T | ENSP00000509593.1:n.1851G>T | |
| ENST00000689011.1:c.646G>T | ||
| ENST00000003084.11:c.4064G>T MANE Select | ENSP00000003084.6:p.Cys1355Phe | |
| ENST00000647720.1:c.1514G>T | ||
| ENST00000649781.1:c.3881G>T | ENSP00000497203.1:p.Cys1294Phe | |
| ENST00000003084.10:c.4064G>T | ENSP00000003084.6:p.Cys1355Phe | |
| ENST00000426809.5:c.3974G>T | ENSP00000389119.1:p.Cys1325Phe | |
| ENST00000600166.1:c.190G>T | ||
| NM_000492.3:c.4064G>T , LRG_663t1:c.4064G>T | NP_000483.3:p.Cys1355Phe | |
| XM_011515751.1:c.4154G>T | XP_011514053.1:p.Cys1385Phe | |
| XM_011515752.1:c.4154G>T | XP_011514054.1:p.Cys1385Phe | |
| XM_011515753.1:c.3821G>T | XP_011514055.1:p.Cys1274Phe | |
| XM_011515754.1:c.3821G>T | XP_011514056.1:p.Cys1274Phe | |
| NM_000492.4:c.4064G>T MANE Select | NP_000483.3:p.Cys1355Phe |