Linked Data
ClinVar Variation Id:
1056205
ClinVar RCV Id:
RCV001364994
dbSNP Id:
rs201263095
ExAC:
11:118183484 G / T
gnomAD v2:
11-118183484-G-T
gnomAD v3:
11-118312769-G-T
gnomAD v4:
11-118312769-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312769G>T , CM000673.2:g.118312769G>T | GRCh38 |
| NC_000011.9:g.118183484G>T , CM000673.1:g.118183484G>T | GRCh37 |
| NC_000011.8:g.117688694G>T | NCBI36 |
| NG_007383.1:g.13190G>T , LRG_38:g.13190G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.255G>T MANE Select | ENSP00000354566.4:p.Lys85Asn | |
| ENST00000361763.8:c.255G>T | ENSP00000354566.4:p.Lys85Asn | |
| ENST00000526146.5:n.801G>T | ||
| ENST00000528435.5:n.808G>T | ||
| ENST00000528600.1:c.237G>T | ENSP00000433975.1:p.Lys79Asn | |
| ENST00000529713.5:n.361G>T | ||
| ENST00000531913.1:n.626G>T | ||
| NM_000733.3:c.255G>T , LRG_38t1:c.255G>T | NP_000724.1:p.Lys85Asn | |
| NM_000733.4:c.255G>T MANE Select | NP_000724.1:p.Lys85Asn |