Linked Data
ClinVar Variation Id:
402185
dbSNP Id:
rs1060499761
gnomAD v4:
14-87934803-A-C
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934803A>C , CM000676.2:g.87934803A>C | GRCh38 |
| NC_000014.8:g.88401147A>C , CM000676.1:g.88401147A>C | GRCh37 |
| NC_000014.7:g.87470900A>C | NCBI36 |
| NG_011853.2:g.63761T>G | |
| NG_011853.3:g.63761T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1987T>G MANE Select | ENSP00000261304.2:p.Trp663Gly | |
| ENST00000261304.6:c.1987T>G | ENSP00000261304.2:p.Trp663Gly | |
| ENST00000393568.8:c.1918T>G | ENSP00000377198.4:p.Trp640Gly | |
| ENST00000393569.6:c.1909T>G | ENSP00000377199.2:p.Trp637Gly | |
| ENST00000544807.6:c.1744-804T>G | ENSP00000437513.2:n.1744-804T>G | |
| ENST00000555000.5:c.1279-804T>G | ENSP00000450472.1:n.1279-804T>G | |
| ENST00000555179.1:c.523T>G | ||
| NM_000153.3:c.1987T>G | NP_000144.2:p.Trp663Gly | |
| NM_001201401.1:c.1918T>G | NP_001188330.1:p.Trp640Gly | |
| NM_001201402.1:c.1909T>G | NP_001188331.1:p.Trp637Gly | |
| XM_011536618.1:c.1819T>G | XP_011534920.1:p.Trp607Gly | |
| XM_011536618.2:c.1819T>G | XP_011534920.1:p.Trp607Gly | |
| NM_000153.4:c.1987T>G MANE Select | NP_000144.2:p.Trp663Gly | |
| NM_001201401.2:c.1918T>G | NP_001188330.1:p.Trp640Gly | |
| NM_001201402.2:c.1909T>G | NP_001188331.1:p.Trp637Gly |