Linked Data
ClinVar Variation Id:
30793
ClinVar RCV Id:
RCV000023778
dbSNP Id:
rs387907013
gnomAD v2:
14-50734532-G-A
gnomAD v3:
14-50267814-G-A
gnomAD v4:
14-50267814-G-A
PubMed:
PMID:21937992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50267814G>A , CM000676.2:g.50267814G>A | GRCh38 |
| NC_000014.8:g.50734532G>A , CM000676.1:g.50734532G>A | GRCh37 |
| NC_000014.7:g.49804282G>A | NCBI36 |
| NG_008092.1:g.49416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267436.9:c.1003C>T MANE Select | ENSP00000267436.4:p.Arg335Ter | |
| ENST00000261699.8:c.1003C>T | ENSP00000261699.4:p.Arg335Ter | |
| ENST00000267436.8:c.1003C>T | ENSP00000267436.4:p.Arg335Ter | |
| ENST00000421284.7:c.1003C>T | ENSP00000405559.3:p.Arg335Ter | |
| NM_024884.2:c.1003C>T | NP_079160.1:p.Arg335Ter | |
| XM_005268075.3:c.1003C>T | XP_005268132.1:p.Arg335Ter | |
| XM_011537166.1:c.892C>T | XP_011535468.1:p.Arg298Ter | |
| XM_011537167.1:c.868C>T | XP_011535469.1:p.Arg290Ter | |
| XM_011537168.1:c.457C>T | XP_011535470.1:p.Arg153Ter | |
| XM_011537169.1:c.457C>T | XP_011535471.1:p.Arg153Ter | |
| XM_005268075.5:c.1003C>T | XP_005268132.1:p.Arg335Ter | |
| XM_011537166.3:c.892C>T | XP_011535468.1:p.Arg298Ter | |
| XM_011537167.3:c.868C>T | XP_011535469.1:p.Arg290Ter | |
| XM_011537168.3:c.457C>T | XP_011535470.1:p.Arg153Ter | |
| XM_017021655.2:c.892C>T | XP_016877144.1:p.Arg298Ter | |
| XM_017021656.2:c.457C>T | XP_016877145.1:p.Arg153Ter | |
| XM_017021657.2:c.457C>T | XP_016877146.1:p.Arg153Ter | |
| NM_024884.3:c.1003C>T MANE Select | NP_079160.1:p.Arg335Ter |