Linked Data
ClinVar Variation Id:
254655
ClinVar RCV Id:
RCV002243928
dbSNP Id:
rs115352435
ExAC:
16:46956326 C / T
gnomAD v2:
16-46956326-C-T
gnomAD v3:
16-46922414-C-T
gnomAD v4:
16-46922414-C-T
PubMed:
PMID:27601654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46922414C>T , CM000678.2:g.46922414C>T | GRCh38 |
| NC_000016.9:g.46956326C>T , CM000678.1:g.46956326C>T | GRCh37 |
| NC_000016.8:g.45513827C>T | NCBI36 |
| NG_042110.1:g.43035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340124.9:c.1210C>T MANE Select | ENSP00000345282.4:p.Arg404Ter | |
| ENST00000340124.8:c.1210C>T | ENSP00000345282.4:p.Arg404Ter | |
| ENST00000440783.2:c.910C>T | ENSP00000413804.2:p.Arg304Ter | |
| ENST00000562801.5:n.1720C>T | ||
| NM_001142466.1:c.910C>T | NP_001135938.1:p.Arg304Ter | |
| NM_001142466.2:c.910C>T | NP_001135938.1:p.Arg304Ter | |
| NM_133443.2:c.1210C>T | NP_597700.1:p.Arg404Ter | |
| NM_133443.3:c.1210C>T | NP_597700.1:p.Arg404Ter | |
| XM_017023790.1:c.778C>T | XP_016879279.1:p.Arg260Ter | |
| NM_133443.4:c.1210C>T MANE Select | NP_597700.1:p.Arg404Ter | |
| NM_001142466.3:c.910C>T | NP_001135938.1:p.Arg304Ter |