Linked Data
ClinVar Variation Id:
402186
dbSNP Id:
rs772574530
ExAC:
9:6533142 T / C
gnomAD v2:
9-6533142-T-C
gnomAD v3:
9-6533142-T-C
gnomAD v4:
9-6533142-T-C
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6533142T>C , CM000671.2:g.6533142T>C | GRCh38 |
| NC_000009.11:g.6533142T>C , CM000671.1:g.6533142T>C | GRCh37 |
| NC_000009.10:g.6523142T>C | NCBI36 |
| NG_016397.1:g.117551A>G , LRG_643:g.117551A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2938A>G MANE Select | ENSP00000370737.4:p.Asn980Asp | |
| ENST00000638233.1:n.1373A>G | ||
| ENST00000638274.1:c.203A>G | ||
| ENST00000638661.1:c.1138A>G | ENSP00000491369.1:p.Asn380Asp | |
| ENST00000638694.1:n.1125A>G | ||
| ENST00000639318.1:c.1042A>G | ENSP00000491932.1:p.Asn348Asp | |
| ENST00000639364.1:n.2638A>G | ||
| ENST00000639443.1:n.2506A>G | ||
| ENST00000639461.1:n.2039A>G | ||
| ENST00000639639.1:c.640A>G | ENSP00000491312.1:p.Asn214Asp | |
| ENST00000639954.1:n.2646A>G | ||
| ENST00000640505.1:n.1177A>G | ||
| ENST00000321612.6:c.2938A>G | ENSP00000370737.3:p.Asn980Asp | |
| ENST00000477960.1:n.519A>G | ||
| NM_000170.2:c.2938A>G , LRG_643t1:c.2938A>G | NP_000161.2:p.Asn980Asp | |
| NM_000170.3:c.2938A>G MANE Select | NP_000161.2:p.Asn980Asp |