Linked Data
ClinVar Variation Id:
56042
ClinVar RCV Id:
RCV000049451
dbSNP Id:
rs386833523
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592933A>T , CM000671.2:g.6592933A>T | GRCh38 |
| NC_000009.11:g.6592933A>T , CM000671.1:g.6592933A>T | GRCh37 |
| NC_000009.10:g.6582933A>T | NCBI36 |
| NG_016397.1:g.57760T>A , LRG_643:g.57760T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1319T>A MANE Select | ENSP00000370737.4:p.Ile440Asn | |
| ENST00000639364.1:n.1019T>A | ||
| ENST00000639443.1:n.887T>A | ||
| ENST00000639493.1:n.471T>A | ||
| ENST00000639954.1:n.1027T>A | ||
| ENST00000640592.1:n.1202T>A | ||
| ENST00000640703.1:n.162T>A | ||
| ENST00000321612.6:c.1319T>A | ENSP00000370737.3:p.Ile440Asn | |
| ENST00000463305.1:n.403T>A | ||
| NM_000170.2:c.1319T>A , LRG_643t1:c.1319T>A | NP_000161.2:p.Ile440Asn | |
| NM_000170.3:c.1319T>A MANE Select | NP_000161.2:p.Ile440Asn |