Linked Data
ClinVar Variation Id:
372263
ClinVar RCV Id:
RCV000412593
dbSNP Id:
rs550944082
PubMed:
PMID:27807076
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119486893T>G , CM000665.2:g.119486893T>G | GRCh38 |
| NC_000003.11:g.119205740T>G , CM000665.1:g.119205740T>G | GRCh37 |
| NC_000003.10:g.120688430T>G | NCBI36 |
| NG_034115.1:g.22956T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295588.9:c.699T>G MANE Select | ENSP00000295588.4:p.Asp233Glu | |
| ENST00000647766.1:c.*419T>G | ENSP00000498165.1:n.*419T>G | |
| ENST00000295588.8:c.699T>G | ENSP00000295588.4:p.Asp233Glu | |
| ENST00000486607.5:c.*350T>G | ENSP00000419876.1:n.*350T>G | |
| ENST00000497447.5:c.*419T>G | ENSP00000419288.1:n.*419T>G | |
| NM_152305.2:c.699T>G | NP_689518.1:p.Asp233Glu | |
| NR_024265.1:n.926T>G | ||
| XM_006713704.2:c.222T>G | XP_006713767.1:p.Asp74Glu | |
| XM_006713705.2:c.222T>G | XP_006713768.1:p.Asp74Glu | |
| XM_011512997.1:c.699T>G | XP_011511299.1:p.Asp233Glu | |
| XM_006713705.3:c.222T>G | XP_006713768.1:p.Asp74Glu | |
| XM_017006878.2:c.222T>G | XP_016862367.1:p.Asp74Glu | |
| XM_017006879.1:c.222T>G | XP_016862368.1:p.Asp74Glu | |
| XM_024453643.1:c.222T>G | XP_024309411.1:p.Asp74Glu | |
| XR_001740211.2:n.758T>G | ||
| XR_001740212.2:n.758T>G | ||
| NM_152305.3:c.699T>G MANE Select | NP_689518.1:p.Asp233Glu | |
| NR_024265.2:n.901T>G |