Linked Data
ClinVar Variation Id:
13929
ClinVar RCV Id:
RCV000014954
RCV000021792
RCV000114391
RCV000427260
RCV000345209
RCV000444839
RCV000434685
RCV000442341
RCV002256000
dbSNP Id:
rs76262710
ExAC:
10:43609096 T / C
gnomAD v2:
10-43609096-T-C
COSMIC:
COSM29803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43113648T>C , CM000672.2:g.43113648T>C | GRCh38 |
| NC_000010.10:g.43609096T>C , CM000672.1:g.43609096T>C | GRCh37 |
| NC_000010.9:g.42929102T>C | NCBI36 |
| NG_007489.1:g.41580T>C , LRG_518:g.41580T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1456T>C | ENSP00000480088.2:p.Cys486Arg | |
| ENST00000683007.1:n.1426T>C | ||
| ENST00000683872.1:n.613T>C | ||
| ENST00000340058.6:c.1852T>C | ENSP00000344798.4:p.Cys618Arg | |
| ENST00000355710.8:c.1852T>C MANE Select | ENSP00000347942.3:p.Cys618Arg | |
| ENST00000671844.1:c.*446T>C | ENSP00000500541.1:n.*446T>C | |
| ENST00000672389.1:c.*446T>C | ENSP00000500252.1:n.*446T>C | |
| ENST00000340058.5:c.1852T>C | ENSP00000344798.4:p.Cys618Arg | |
| ENST00000355710.7:c.1852T>C | ENSP00000347942.3:p.Cys618Arg | |
| ENST00000498820.5:c.403T>C | ENSP00000419080.1:p.Cys135Arg | |
| ENST00000615310.4:c.1289+2416T>C | ENSP00000480088.1:n.1289+2416T>C | |
| NM_020630.4:c.1852T>C , LRG_518t2:c.1852T>C | NP_065681.1:p.Cys618Arg | |
| NM_020975.4:c.1852T>C , LRG_518t1:c.1852T>C | NP_066124.1:p.Cys618Arg | |
| XM_011540027.1:c.1852T>C | XP_011538329.1:p.Cys618Arg | |
| NM_001355216.1:c.1090T>C | NP_001342145.1:p.Cys364Arg | |
| NM_020630.5:c.1852T>C | NP_065681.1:p.Cys618Arg | |
| NM_020975.5:c.1852T>C | NP_066124.1:p.Cys618Arg | |
| NM_020975.6:c.1852T>C MANE Select | NP_066124.1:p.Cys618Arg | |
| NM_020630.6:c.1852T>C | NP_065681.1:p.Cys618Arg |