Linked Data
ClinVar Variation Id:
92500
dbSNP Id:
rs421262
ExAC:
14:88401213 T / C
gnomAD v2:
14-88401213-T-C
gnomAD v3:
14-87934869-T-C
gnomAD v4:
14-87934869-T-C
PubMed:
PMID:20886637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934869T>C , CM000676.2:g.87934869T>C | GRCh38 |
| NC_000014.8:g.88401213T>C , CM000676.1:g.88401213T>C | GRCh37 |
| NC_000014.7:g.87470966T>C | NCBI36 |
| NG_011853.2:g.63695A>G | |
| NG_011853.3:g.63695A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1921A>G MANE Select | ENSP00000261304.2:p.Thr641Ala | |
| ENST00000261304.6:c.1921A>G | ENSP00000261304.2:p.Thr641Ala | |
| ENST00000393568.8:c.1852A>G | ENSP00000377198.4:p.Thr618Ala | |
| ENST00000393569.6:c.1843A>G | ENSP00000377199.2:p.Thr615Ala | |
| ENST00000544807.6:c.1744-870A>G | ENSP00000437513.2:n.1744-870A>G | |
| ENST00000555000.5:c.1279-870A>G | ENSP00000450472.1:n.1279-870A>G | |
| ENST00000555179.1:c.457A>G | ||
| NM_000153.3:c.1921A>G | NP_000144.2:p.Thr641Ala | |
| NM_001201401.1:c.1852A>G | NP_001188330.1:p.Thr618Ala | |
| NM_001201402.1:c.1843A>G | NP_001188331.1:p.Thr615Ala | |
| XM_011536618.1:c.1753A>G | XP_011534920.1:p.Thr585Ala | |
| XM_011536618.2:c.1753A>G | XP_011534920.1:p.Thr585Ala | |
| NM_000153.4:c.1921A>G MANE Select | NP_000144.2:p.Thr641Ala | |
| NM_001201401.2:c.1852A>G | NP_001188330.1:p.Thr618Ala | |
| NM_001201402.2:c.1843A>G | NP_001188331.1:p.Thr615Ala |