Linked Data
ClinVar Variation Id:
1064265
ClinVar RCV Id:
RCV001374213
dbSNP Id:
rs1788979891
gnomAD v3:
20-10639844-T-A
gnomAD v4:
20-10639844-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639844T>A , CM000682.2:g.10639844T>A | GRCh38 |
| NC_000020.10:g.10620492T>A , CM000682.1:g.10620492T>A | GRCh37 |
| NC_000020.9:g.10568492T>A | NCBI36 |
| NG_007496.1:g.39203A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3311A>T MANE Select | ENSP00000254958.4:p.His1104Leu | |
| ENST00000254958.9:c.3311A>T | ENSP00000254958.4:p.His1104Leu | |
| ENST00000423891.6:n.3177A>T | ||
| NM_000214.2:c.3311A>T | NP_000205.1:p.His1104Leu | |
| NM_000214.3:c.3311A>T MANE Select | NP_000205.1:p.His1104Leu |