Linked Data
ClinVar Variation Id:
56085
ClinVar RCV Id:
RCV000049494
dbSNP Id:
rs386833566
gnomAD v4:
9-6540077-T-A
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6540077T>A , CM000671.2:g.6540077T>A | GRCh38 |
| NC_000009.11:g.6540077T>A , CM000671.1:g.6540077T>A | GRCh37 |
| NC_000009.10:g.6530077T>A | NCBI36 |
| NG_016397.1:g.110616A>T , LRG_643:g.110616A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2639A>T MANE Select | ENSP00000370737.4:p.Asp880Val | |
| ENST00000638233.1:n.1074A>T | ||
| ENST00000638661.1:c.839A>T | ENSP00000491369.1:p.Asp280Val | |
| ENST00000638694.1:n.826A>T | ||
| ENST00000639318.1:c.770-3841A>T | ENSP00000491932.1:n.770-3841A>T | |
| ENST00000639364.1:n.2339A>T | ||
| ENST00000639443.1:n.2207A>T | ||
| ENST00000639461.1:n.1740A>T | ||
| ENST00000639639.1:c.341A>T | ENSP00000491312.1:p.Asp114Val | |
| ENST00000639954.1:n.2347A>T | ||
| ENST00000640505.1:n.878A>T | ||
| ENST00000321612.6:c.2639A>T | ENSP00000370737.3:p.Asp880Val | |
| ENST00000477960.1:n.103A>T | ||
| NM_000170.2:c.2639A>T , LRG_643t1:c.2639A>T | NP_000161.2:p.Asp880Val | |
| NM_000170.3:c.2639A>T MANE Select | NP_000161.2:p.Asp880Val |