Linked Data
ClinVar Variation Id:
531823
dbSNP Id:
rs772757329
ExAC:
2:170344503 C / T
gnomAD v2:
2-170344503-C-T
gnomAD v3:
2-169487993-C-T
gnomAD v4:
2-169487993-C-T
COSMIC:
COSM3315161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169487993C>T , CM000664.2:g.169487993C>T | GRCh38 |
| NC_000002.11:g.170344503C>T , CM000664.1:g.170344503C>T | GRCh37 |
| NC_000002.10:g.170052749C>T | NCBI36 |
| NG_011567.1:g.13498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.265C>T MANE Select | ENSP00000295240.3:p.Arg89Ter | |
| ENST00000295240.7:c.265C>T | ENSP00000295240.3:p.Arg89Ter | |
| ENST00000392663.6:c.265C>T | ENSP00000376431.2:p.Arg89Ter | |
| ENST00000443151.1:c.149C>T | ENSP00000406182.1:p.Thr50Met | |
| ENST00000475571.1:n.232C>T | ||
| ENST00000513963.1:c.265C>T | ENSP00000424363.1:p.Arg89Ter | |
| NM_152384.2:c.265C>T | NP_689597.1:p.Arg89Ter | |
| NM_152384.3:c.265C>T MANE Select | NP_689597.1:p.Arg89Ter |