Linked Data
ClinVar Variation Id:
56083
ClinVar RCV Id:
RCV000049492
dbSNP Id:
rs386833564
gnomAD v4:
9-6540142-A-C
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6540142A>C , CM000671.2:g.6540142A>C | GRCh38 |
| NC_000009.11:g.6540142A>C , CM000671.1:g.6540142A>C | GRCh37 |
| NC_000009.10:g.6530142A>C | NCBI36 |
| NG_016397.1:g.110551T>G , LRG_643:g.110551T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2574T>G MANE Select | ENSP00000370737.4:p.Tyr858Ter | |
| ENST00000638233.1:n.1009T>G | ||
| ENST00000638661.1:c.774T>G | ENSP00000491369.1:p.Tyr258Ter | |
| ENST00000638694.1:n.761T>G | ||
| ENST00000639318.1:c.770-3906T>G | ENSP00000491932.1:n.770-3906T>G | |
| ENST00000639364.1:n.2274T>G | ||
| ENST00000639443.1:n.2142T>G | ||
| ENST00000639461.1:n.1675T>G | ||
| ENST00000639639.1:c.276T>G | ENSP00000491312.1:p.Tyr92Ter | |
| ENST00000639954.1:n.2282T>G | ||
| ENST00000640505.1:n.813T>G | ||
| ENST00000321612.6:c.2574T>G | ENSP00000370737.3:p.Tyr858Ter | |
| ENST00000477960.1:n.38T>G | ||
| NM_000170.2:c.2574T>G , LRG_643t1:c.2574T>G | NP_000161.2:p.Tyr858Ter | |
| NM_000170.3:c.2574T>G MANE Select | NP_000161.2:p.Tyr858Ter |