Linked Data
ClinVar Variation Id:
2059360
ClinVar RCV Id:
RCV002952761
dbSNP Id:
rs1767333066
MyVariant Identifiers:
chr6:g.35423938G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35456161G>T , CM000668.2:g.35456161G>T | GRCh38 |
| NC_000006.11:g.35423938G>T , CM000668.1:g.35423938G>T | GRCh37 |
| NC_000006.10:g.35531916G>T | NCBI36 |
| NG_011708.1:g.8801G>T , LRG_498:g.8801G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.663G>T | ENSP00000512511.1:p.Arg221= | |
| ENST00000696265.1:c.663G>T | ENSP00000512512.1:p.Arg221= | |
| ENST00000696266.1:c.381G>T | ENSP00000512513.1:p.Arg127= | |
| ENST00000696267.1:n.303G>T | ||
| ENST00000229769.3:c.663G>T MANE Select | ENSP00000229769.2:p.Arg221= | |
| ENST00000648059.1:c.663G>T | ENSP00000497902.1:p.Arg221= | |
| ENST00000229769.2:c.663G>T | ENSP00000229769.2:p.Arg221= | |
| NM_021922.2:c.663G>T , LRG_498t1:c.663G>T | NP_068741.1:p.Arg221= | |
| XM_005248885.2:c.663G>T | XP_005248942.1:p.Arg221= | |
| XM_005248886.2:c.663G>T | XP_005248943.1:p.Arg221= | |
| XM_005248887.2:c.663G>T | XP_005248944.1:p.Arg221= | |
| XM_005248888.2:c.663G>T | XP_005248945.1:p.Arg221= | |
| XM_011514343.1:c.369G>T | XP_011512645.1:p.Arg123= | |
| XM_011514344.1:c.369G>T | XP_011512646.1:p.Arg123= | |
| XM_005248888.3:c.663G>T | XP_005248945.1:p.Arg221= | |
| XM_011514343.2:c.369G>T | XP_011512645.1:p.Arg123= | |
| XR_001743226.1:n.870G>T | ||
| XR_002956267.1:n.870G>T | ||
| NM_021922.3:c.663G>T MANE Select | NP_068741.1:p.Arg221= |