Linked Data
ClinVar Variation Id:
217494
ClinVar RCV Id:
RCV001326745
dbSNP Id:
rs778127887
ExAC:
3:14183113 C / T
gnomAD v2:
3-14183113-C-T
gnomAD v3:
3-14141613-C-T
gnomAD v4:
3-14141613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141613C>T , CM000665.2:g.14141613C>T | GRCh38 |
| NC_000003.11:g.14183113C>T , CM000665.1:g.14183113C>T | GRCh37 |
| NC_000003.10:g.14158114C>T | NCBI36 |
| NG_008975.1:g.21674C>T , LRG_435:g.21674C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432444.2:c.*1051C>T | ENSP00000395617.1:n.*1051C>T | |
| ENST00000306077.5:c.1021C>T MANE Select | ENSP00000303992.5:p.Arg341Ter | |
| ENST00000306077.4:c.1021C>T | ENSP00000303992.4:p.Arg341Ter | |
| ENST00000601399.3:n.327+2316C>T | ||
| ENST00000608606.1:c.236+2316C>T | ||
| NM_024334.2:c.1021C>T , LRG_435t1:c.1021C>T | NP_077310.1:p.Arg341Ter | |
| XM_011534109.1:c.916C>T | XP_011532411.1:p.Arg306Ter | |
| XM_017007176.2:c.916C>T | XP_016862665.1:p.Arg306Ter | |
| NM_024334.3:c.1021C>T MANE Select | NP_077310.1:p.Arg341Ter |