Linked Data
ClinVar Variation Id:
367174
dbSNP Id:
rs113736090
ExAC:
9:6534708 G / A
gnomAD v2:
9-6534708-G-A
gnomAD v3:
9-6534708-G-A
gnomAD v4:
9-6534708-G-A
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6534708G>A , CM000671.2:g.6534708G>A | GRCh38 |
| NC_000009.11:g.6534708G>A , CM000671.1:g.6534708G>A | GRCh37 |
| NC_000009.10:g.6524708G>A | NCBI36 |
| NG_016397.1:g.115985C>T , LRG_643:g.115985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2919C>T MANE Select | ENSP00000370737.4:p.Leu973= | |
| ENST00000638233.1:n.1354C>T | ||
| ENST00000638274.1:c.71C>T | ||
| ENST00000638661.1:c.1119C>T | ENSP00000491369.1:p.Leu373= | |
| ENST00000638694.1:n.1106C>T | ||
| ENST00000639318.1:c.1023C>T | ENSP00000491932.1:p.Leu341= | |
| ENST00000639364.1:n.2619C>T | ||
| ENST00000639443.1:n.2487C>T | ||
| ENST00000639461.1:n.2020C>T | ||
| ENST00000639639.1:c.621C>T | ENSP00000491312.1:p.Leu207= | |
| ENST00000639954.1:n.2627C>T | ||
| ENST00000640505.1:n.1158C>T | ||
| ENST00000321612.6:c.2919C>T | ENSP00000370737.3:p.Leu973= | |
| ENST00000477960.1:n.500C>T | ||
| NM_000170.2:c.2919C>T , LRG_643t1:c.2919C>T | NP_000161.2:p.Leu973= | |
| NM_000170.3:c.2919C>T MANE Select | NP_000161.2:p.Leu973= |