Linked Data
ClinVar Variation Id:
2932
ClinVar RCV Id:
RCV000003066
dbSNP Id:
rs119461974
gnomAD v2:
12-65130819-G-A
gnomAD v4:
12-64737039-G-A
COSMIC:
COSM296408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64737039G>A , CM000674.2:g.64737039G>A | GRCh38 |
| NC_000012.11:g.65130819G>A , CM000674.1:g.65130819G>A | GRCh37 |
| NC_000012.10:g.63417086G>A | NCBI36 |
| NG_008955.1:g.27408C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258145.8:c.1063C>T MANE Select | ENSP00000258145.3:p.Arg355Ter | |
| ENST00000258145.7:c.1063C>T | ENSP00000258145.3:p.Arg355Ter | |
| ENST00000418919.6:c.895C>T | ENSP00000413130.2:p.Arg299Ter | |
| ENST00000540196.5:c.521C>T | ||
| ENST00000541781.5:n.1118C>T | ||
| ENST00000542058.5:c.1003C>T | ENSP00000444819.1:p.Arg335Ter | |
| ENST00000543646.5:c.1159C>T | ENSP00000438497.1:p.Arg387Ter | |
| NM_002076.3:c.1063C>T | NP_002067.1:p.Arg355Ter | |
| NM_002076.4:c.1063C>T MANE Select | NP_002067.1:p.Arg355Ter |