Linked Data
ClinVar Variation Id:
13915
ClinVar RCV Id:
RCV000014935
RCV000182580
RCV000232285
RCV000568259
RCV000736276
RCV003324711
RCV000826204
dbSNP Id:
rs77316810
gnomAD v4:
10-43113654-T-C
COSMIC:
COSM29804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43113654T>C , CM000672.2:g.43113654T>C | GRCh38 |
| NC_000010.10:g.43609102T>C , CM000672.1:g.43609102T>C | GRCh37 |
| NC_000010.9:g.42929108T>C | NCBI36 |
| NG_007489.1:g.41586T>C , LRG_518:g.41586T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1462T>C | ENSP00000480088.2:p.Cys488Arg | |
| ENST00000683007.1:n.1432T>C | ||
| ENST00000683872.1:n.619T>C | ||
| ENST00000340058.6:c.1858T>C | ENSP00000344798.4:p.Cys620Arg | |
| ENST00000355710.8:c.1858T>C MANE Select | ENSP00000347942.3:p.Cys620Arg | |
| ENST00000671844.1:c.*452T>C | ENSP00000500541.1:n.*452T>C | |
| ENST00000672389.1:c.*452T>C | ENSP00000500252.1:n.*452T>C | |
| ENST00000340058.5:c.1858T>C | ENSP00000344798.4:p.Cys620Arg | |
| ENST00000355710.7:c.1858T>C | ENSP00000347942.3:p.Cys620Arg | |
| ENST00000498820.5:c.409T>C | ENSP00000419080.1:p.Cys137Arg | |
| ENST00000615310.4:c.1289+2422T>C | ENSP00000480088.1:n.1289+2422T>C | |
| NM_020630.4:c.1858T>C , LRG_518t2:c.1858T>C | NP_065681.1:p.Cys620Arg | |
| NM_020975.4:c.1858T>C , LRG_518t1:c.1858T>C | NP_066124.1:p.Cys620Arg | |
| XM_011540027.1:c.1858T>C | XP_011538329.1:p.Cys620Arg | |
| NM_001355216.1:c.1096T>C | NP_001342145.1:p.Cys366Arg | |
| NM_020630.5:c.1858T>C | NP_065681.1:p.Cys620Arg | |
| NM_020975.5:c.1858T>C | NP_066124.1:p.Cys620Arg | |
| NM_020975.6:c.1858T>C MANE Select | NP_066124.1:p.Cys620Arg | |
| NM_020630.6:c.1858T>C | NP_065681.1:p.Cys620Arg |