Linked Data
ClinVar Variation Id:
134338
dbSNP Id:
rs141268133
ExAC:
6:35426199 A / C
gnomAD v2:
6-35426199-A-C
gnomAD v3:
6-35458422-A-C
gnomAD v4:
6-35458422-A-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35458422A>C , CM000668.2:g.35458422A>C | GRCh38 |
| NC_000006.11:g.35426199A>C , CM000668.1:g.35426199A>C | GRCh37 |
| NC_000006.10:g.35534177A>C | NCBI36 |
| NG_011708.1:g.11062A>C , LRG_498:g.11062A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.1095A>C | ENSP00000512511.1:p.Arg365Ser | |
| ENST00000696265.1:c.1095A>C | ENSP00000512512.1:p.Arg365Ser | |
| ENST00000696266.1:c.744A>C | ENSP00000512513.1:p.Arg248Ser | |
| ENST00000696267.1:n.1362A>C | ||
| ENST00000229769.3:c.1095A>C MANE Select | ENSP00000229769.2:p.Arg365Ser | |
| ENST00000648059.1:c.1095A>C | ENSP00000497902.1:p.Arg365Ser | |
| ENST00000229769.2:c.1095A>C | ENSP00000229769.2:p.Arg365Ser | |
| NM_021922.2:c.1095A>C , LRG_498t1:c.1095A>C | NP_068741.1:p.Arg365Ser | |
| XM_005248885.2:c.1074A>C | XP_005248942.1:p.Arg358Ser | |
| XM_005248886.2:c.1026A>C | XP_005248943.1:p.Arg342Ser | |
| XM_005248887.2:c.1095A>C | XP_005248944.1:p.Arg365Ser | |
| XM_005248888.2:c.1095A>C | XP_005248945.1:p.Arg365Ser | |
| XM_011514343.1:c.801A>C | XP_011512645.1:p.Arg267Ser | |
| XM_011514344.1:c.801A>C | XP_011512646.1:p.Arg267Ser | |
| XM_005248888.3:c.1095A>C | XP_005248945.1:p.Arg365Ser | |
| XM_011514343.2:c.801A>C | XP_011512645.1:p.Arg267Ser | |
| XR_001743226.1:n.1302A>C | ||
| XR_002956267.1:n.1596A>C | ||
| NM_021922.3:c.1095A>C MANE Select | NP_068741.1:p.Arg365Ser |