Linked Data
ClinVar Variation Id:
1032457
ClinVar RCV Id:
RCV001334564
dbSNP Id:
rs1948142751
gnomAD v4:
11-118312735-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312735A>C , CM000673.2:g.118312735A>C | GRCh38 |
| NC_000011.9:g.118183450A>C , CM000673.1:g.118183450A>C | GRCh37 |
| NC_000011.8:g.117688660A>C | NCBI36 |
| NG_007383.1:g.13156A>C , LRG_38:g.13156A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.221A>C MANE Select | ENSP00000354566.4:p.Asn74Thr | |
| ENST00000361763.8:c.221A>C | ENSP00000354566.4:p.Asn74Thr | |
| ENST00000526146.5:n.767A>C | ||
| ENST00000528435.5:n.774A>C | ||
| ENST00000528600.1:c.203A>C | ENSP00000433975.1:p.Asn68Thr | |
| ENST00000529713.5:n.327A>C | ||
| ENST00000531913.1:n.592A>C | ||
| NM_000733.3:c.221A>C , LRG_38t1:c.221A>C | NP_000724.1:p.Asn74Thr | |
| NM_000733.4:c.221A>C MANE Select | NP_000724.1:p.Asn74Thr |