Linked Data
ClinVar Variation Id:
374541
dbSNP Id:
rs766380148
ExAC:
4:108870613 C / T
gnomAD v2:
4-108870613-C-T
gnomAD v4:
4-107949457-C-T
COSMIC:
COSM3598957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107949457C>T , CM000666.2:g.107949457C>T | GRCh38 |
| NC_000004.11:g.108870613C>T , CM000666.1:g.108870613C>T | GRCh37 |
| NC_000004.10:g.109090062C>T | NCBI36 |
| NG_007961.1:g.22897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332884.11:c.1396C>T MANE Select | ENSP00000333212.6:p.Arg466Ter | |
| ENST00000332884.10:c.1396C>T | ENSP00000333212.6:p.Arg466Ter | |
| ENST00000508453.1:c.769C>T | ENSP00000423667.1:p.Arg257Ter | |
| NM_183075.2:c.1396C>T | NP_898898.1:p.Arg466Ter | |
| XM_005262717.2:c.1450C>T | XP_005262774.1:p.Arg484Ter | |
| XM_005262720.2:c.760C>T | XP_005262777.1:p.Arg254Ter | |
| XR_001741783.1:n.156-38908G>A | ||
| XR_001741784.1:n.530+29263G>A | ||
| NM_183075.3:c.1396C>T MANE Select | NP_898898.1:p.Arg466Ter |