Linked Data
ClinVar Variation Id:
2700
ClinVar RCV Id:
RCV002221145
dbSNP Id:
rs730880304
gnomAD v4:
9-99218792-C-A
PubMed:
PMID:12684507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218792C>A , CM000671.2:g.99218792C>A | GRCh38 |
| NC_000009.11:g.101981074C>A , CM000671.1:g.101981074C>A | GRCh37 |
| NC_000009.10:g.101020895C>A | NCBI36 |
| NG_008928.1:g.8173G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.393G>T MANE Select | ENSP00000417764.1:p.Lys131Asn | |
| ENST00000238477.5:c.*135G>T | ENSP00000432675.2:n.*135G>T | |
| ENST00000319033.7:c.114G>T | ENSP00000326609.6:p.Lys38Asn | |
| ENST00000476832.1:c.393G>T | ENSP00000417764.1:p.Lys131Asn | |
| NM_033087.3:c.393G>T | NP_149078.1:p.Lys131Asn | |
| NR_024532.1:n.622G>T | ||
| NM_033087.4:c.393G>T MANE Select | NP_149078.1:p.Lys131Asn | |
| NR_024532.2:n.600G>T |