ClinVar Variation:
dbSNP:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614474C>T , CM000673.2:g.57614474C>T | GRCh38 |
| NC_000011.9:g.57381947C>T , CM000673.1:g.57381947C>T | GRCh37 |
| NC_000011.8:g.57138523C>T | NCBI36 |
| NG_009625.1:g.21921C>T , LRG_105:g.21921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.1396C>T MANE Select | ENSP00000278407.4:p.Arg466Cys | |
| ENST00000528996.2:c.*293C>T | ENSP00000431226.2:n.*293C>T | |
| ENST00000531605.2:c.*1172C>T | ENSP00000503752.1:n.*1172C>T | |
| ENST00000619430.2:c.1192C>T | ENSP00000478572.2:p.Arg398Cys | |
| ENST00000676670.1:c.1396C>T | ENSP00000504807.1:p.Arg466Cys | |
| ENST00000676741.1:n.2478C>T | ||
| ENST00000677624.1:c.*816C>T | ENSP00000503979.1:n.*816C>T | |
| ENST00000677625.1:c.1342C>T | ENSP00000502857.1:p.Arg448Cys | |
| ENST00000677856.1:n.1649C>T | ||
| ENST00000677915.1:c.*293C>T | ENSP00000503118.1:n.*293C>T | |
| ENST00000678533.1:c.*950C>T | ENSP00000503873.1:n.*950C>T | |
| ENST00000678592.1:c.*336C>T | ENSP00000504424.1:n.*336C>T | |
| ENST00000278407.8:c.1396C>T | ENSP00000278407.4:p.Arg466Cys | |
| ENST00000340687.10:c.1285C>T | ENSP00000341861.6:p.Arg429Cys | |
| ENST00000378323.8:c.1411C>T | ENSP00000367574.4:p.Arg471Cys | |
| ENST00000378324.6:c.1240C>T | ENSP00000367575.2:p.Arg414Cys | |
| ENST00000403558.1:c.1525C>T | ENSP00000384420.1:p.Arg509Cys | |
| ENST00000528996.1:c.597C>T | ENSP00000431226.1:n.597C>T | |
| ENST00000530113.1:n.853C>T | ||
| ENST00000531133.5:c.897C>T | ENSP00000435431.1:n.897C>T | |
| ENST00000531797.5:c.*421C>T | ENSP00000432554.1:n.*421C>T | |
| ENST00000619430.1:c.527C>T | ENSP00000478572.1:n.527C>T | |
| NM_000062.2:c.1396C>T , LRG_105t1:c.1396C>T | NP_000053.2:p.Arg466Cys | |
| NM_001032295.1:c.1396C>T | NP_001027466.1:p.Arg466Cys | |
| NM_000062.3:c.1396C>T MANE Select | NP_000053.2:p.Arg466Cys | |
| NM_001032295.2:c.1396C>T | NP_001027466.1:p.Arg466Cys |