Linked Data
ClinVar Variation Id:
1544979
ClinVar RCV Id:
RCV002182477
dbSNP Id:
rs2123471762
COSMIC:
COSM5569781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350395G>T , CM000682.2:g.63350395G>T | GRCh38 |
| NC_000020.10:g.61981747G>T , CM000682.1:g.61981747G>T | GRCh37 |
| NC_000020.9:g.61452191G>T | NCBI36 |
| NG_011931.1:g.15949C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1016C>A MANE Select | ENSP00000359285.4:p.Thr339Asn | |
| ENST00000370263.8:c.1016C>A | ENSP00000359285.4:p.Thr339Asn | |
| ENST00000463705.5:n.1664C>A | ||
| ENST00000467563.3:n.1086C>A | ||
| ENST00000498043.6:c.1040C>A | ||
| ENST00000615287.4:c.803C>A | ENSP00000483388.1:p.Thr268Asn | |
| ENST00000627000.1:c.*705C>A | ENSP00000486914.1:n.*705C>A | |
| ENST00000630240.1:n.737C>A | ||
| NM_000744.6:c.1016C>A | NP_000735.1:p.Thr339Asn | |
| NM_001256573.1:c.488C>A | NP_001243502.1:p.Thr163Asn | |
| NR_046317.1:n.1272C>A | ||
| XM_011528524.1:c.803C>A | XP_011526826.1:p.Thr268Asn | |
| XM_017027625.2:c.488C>A | XP_016883114.1:p.Thr163Asn | |
| XM_024451822.1:c.488C>A | XP_024307590.1:p.Thr163Asn | |
| NM_001256573.2:c.488C>A | NP_001243502.1:p.Thr163Asn | |
| NR_046317.2:n.1225C>A | ||
| NM_000744.7:c.1016C>A MANE Select | NP_000735.1:p.Thr339Asn |