Linked Data
ClinVar Variation Id:
2145759
ClinVar RCV Id:
RCV003065193
dbSNP Id:
rs1334231006
gnomAD v2:
14-88401084-T-C
gnomAD v3:
14-87934740-T-C
gnomAD v4:
14-87934740-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934740T>C , CM000676.2:g.87934740T>C | GRCh38 |
| NC_000014.8:g.88401084T>C , CM000676.1:g.88401084T>C | GRCh37 |
| NC_000014.7:g.87470837T>C | NCBI36 |
| NG_011853.2:g.63824A>G | |
| NG_011853.3:g.63824A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.2050A>G MANE Select | ENSP00000261304.2:p.Thr684Ala | |
| ENST00000261304.6:c.2050A>G | ENSP00000261304.2:p.Thr684Ala | |
| ENST00000393568.8:c.1981A>G | ENSP00000377198.4:p.Thr661Ala | |
| ENST00000393569.6:c.1972A>G | ENSP00000377199.2:p.Thr658Ala | |
| ENST00000544807.6:c.1744-741A>G | ENSP00000437513.2:n.1744-741A>G | |
| ENST00000555000.5:c.1279-741A>G | ENSP00000450472.1:n.1279-741A>G | |
| NM_000153.3:c.2050A>G | NP_000144.2:p.Thr684Ala | |
| NM_001201401.1:c.1981A>G | NP_001188330.1:p.Thr661Ala | |
| NM_001201402.1:c.1972A>G | NP_001188331.1:p.Thr658Ala | |
| XM_011536618.1:c.1882A>G | XP_011534920.1:p.Thr628Ala | |
| XM_011536618.2:c.1882A>G | XP_011534920.1:p.Thr628Ala | |
| NM_000153.4:c.2050A>G MANE Select | NP_000144.2:p.Thr684Ala | |
| NM_001201401.2:c.1981A>G | NP_001188330.1:p.Thr661Ala | |
| NM_001201402.2:c.1972A>G | NP_001188331.1:p.Thr658Ala |