Linked Data
ClinVar Variation Id:
36076
ClinVar RCV Id:
RCV000029738
RCV000586485
RCV000755191
RCV000855643
RCV001046640
RCV001843461
RCV002326690
dbSNP Id:
rs193922205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468527A>T , CM000677.2:g.48468527A>T | GRCh38 |
| NC_000015.9:g.48760724A>T , CM000677.1:g.48760724A>T | GRCh37 |
| NC_000015.8:g.46548016A>T | NCBI36 |
| NG_008805.2:g.182262T>A , LRG_778:g.182262T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4467T>A | ENSP00000453958.2:p.Asn1489Lys | |
| ENST00000674301.2:c.4467T>A | ENSP00000501333.2:p.Asn1489Lys | |
| ENST00000684448.1:n.3141T>A | ||
| ENST00000316623.10:c.4467T>A MANE Select | ENSP00000325527.5:p.Asn1489Lys | |
| ENST00000316623.9:c.4467T>A | ENSP00000325527.5:p.Asn1489Lys | |
| ENST00000537463.6:c.*230T>A | ENSP00000440294.2:n.*230T>A | |
| NM_000138.4:c.4467T>A , LRG_778t1:c.4467T>A | NP_000129.3:p.Asn1489Lys | |
| NM_000138.5:c.4467T>A MANE Select | NP_000129.3:p.Asn1489Lys |