Linked Data
ClinVar Variation Id:
56079
ClinVar RCV Id:
RCV000049488
dbSNP Id:
rs386833560
ExAC:
9:6550883 G / A
gnomAD v2:
9-6550883-G-A
gnomAD v3:
9-6550883-G-A
gnomAD v4:
9-6550883-G-A
COSMIC:
COSM5143823
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6550883G>A , CM000671.2:g.6550883G>A | GRCh38 |
| NC_000009.11:g.6550883G>A , CM000671.1:g.6550883G>A | GRCh37 |
| NC_000009.10:g.6540883G>A | NCBI36 |
| NG_016397.1:g.99810C>T , LRG_643:g.99810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2489C>T MANE Select | ENSP00000370737.4:p.Thr830Met | |
| ENST00000638233.1:n.924C>T | ||
| ENST00000638661.1:c.689C>T | ENSP00000491369.1:p.Thr230Met | |
| ENST00000638694.1:n.676C>T | ||
| ENST00000639318.1:c.689C>T | ENSP00000491932.1:p.Thr230Met | |
| ENST00000639364.1:n.2189C>T | ||
| ENST00000639443.1:n.2057C>T | ||
| ENST00000639639.1:c.191C>T | ENSP00000491312.1:p.Thr64Met | |
| ENST00000639954.1:n.2197C>T | ||
| ENST00000640505.1:n.728C>T | ||
| ENST00000321612.6:c.2489C>T | ENSP00000370737.3:p.Thr830Met | |
| NM_000170.2:c.2489C>T , LRG_643t1:c.2489C>T | NP_000161.2:p.Thr830Met | |
| NM_000170.3:c.2489C>T MANE Select | NP_000161.2:p.Thr830Met |