Linked Data
ClinVar Variation Id:
14962
ClinVar RCV Id:
RCV000016102
dbSNP Id:
rs35812514
ExAC:
11:5275554 C / T
gnomAD v2:
11-5275554-C-T
gnomAD v4:
11-5254324-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254324C>T , CM000673.2:g.5254324C>T | GRCh38 |
| NC_000011.9:g.5275554C>T , CM000673.1:g.5275554C>T | GRCh37 |
| NC_000011.8:g.5232130C>T | NCBI36 |
| NG_000007.3:g.43292G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336906.6:c.283G>A MANE Select | ENSP00000338082.4:p.Asp95Asn | |
| ENST00000380252.6:c.118G>A | ENSP00000369602.2:p.Asp40Asn | |
| ENST00000642908.1:c.283G>A | ENSP00000495346.1:p.Asp95Asn | |
| ENST00000647543.1:c.283G>A | ENSP00000496470.1:p.Asp95Asn | |
| ENST00000336906.4:c.283G>A | ENSP00000338082.4:p.Asp95Asn | |
| ENST00000380252.5:c.253G>A | ENSP00000369602.1:p.Asp85Asn | |
| ENST00000380259.6:c.283G>A | ENSP00000369609.2:p.Asp95Asn | |
| ENST00000444587.1:c.*152G>A | ENSP00000488218.1:n.*152G>A | |
| ENST00000620888.4:c.283G>A | ENSP00000479637.1:p.Asp95Asn | |
| ENST00000624109.1:c.72C>T | ENSP00000485458.1:p.Val24= | |
| NM_000184.2:c.283G>A | NP_000175.1:p.Asp95Asn | |
| NM_000184.3:c.283G>A MANE Select | NP_000175.1:p.Asp95Asn |