Linked Data
ClinVar Variation Id:
56063
ClinVar RCV Id:
RCV000049472
dbSNP Id:
rs386833544
gnomAD v3:
9-6556159-A-T
gnomAD v4:
9-6556159-A-T
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556159A>T , CM000671.2:g.6556159A>T | GRCh38 |
| NC_000009.11:g.6556159A>T , CM000671.1:g.6556159A>T | GRCh37 |
| NC_000009.10:g.6546159A>T | NCBI36 |
| NG_016397.1:g.94534T>A , LRG_643:g.94534T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2196T>A MANE Select | ENSP00000370737.4:p.Asn732Lys | |
| ENST00000638233.1:n.631T>A | ||
| ENST00000638661.1:c.396T>A | ENSP00000491369.1:p.Asn132Lys | |
| ENST00000638694.1:n.383T>A | ||
| ENST00000639318.1:c.396T>A | ENSP00000491932.1:p.Asn132Lys | |
| ENST00000639364.1:n.1896T>A | ||
| ENST00000639443.1:n.1764T>A | ||
| ENST00000639954.1:n.1904T>A | ||
| ENST00000640505.1:n.435T>A | ||
| ENST00000321612.6:c.2196T>A | ENSP00000370737.3:p.Asn732Lys | |
| NM_000170.2:c.2196T>A , LRG_643t1:c.2196T>A | NP_000161.2:p.Asn732Lys | |
| NM_000170.3:c.2196T>A MANE Select | NP_000161.2:p.Asn732Lys |