Linked Data
ClinVar Variation Id:
1345348
ClinVar RCV Id:
RCV002037226
dbSNP Id:
rs200378205
gnomAD v4:
14-87945631-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945631C>A , CM000676.2:g.87945631C>A | GRCh38 |
| NC_000014.8:g.88411975C>A , CM000676.1:g.88411975C>A | GRCh37 |
| NC_000014.7:g.87481728C>A | NCBI36 |
| NG_011853.2:g.52933G>T | |
| NG_011853.3:g.52933G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1592G>T MANE Select | ENSP00000261304.2:p.Arg531Leu | |
| ENST00000261304.6:c.1592G>T | ENSP00000261304.2:p.Arg531Leu | |
| ENST00000393568.8:c.1523G>T | ENSP00000377198.4:p.Arg508Leu | |
| ENST00000393569.6:c.1514G>T | ENSP00000377199.2:p.Arg505Leu | |
| ENST00000544807.6:c.1424G>T | ENSP00000437513.2:p.Arg475Leu | |
| ENST00000555000.5:c.959G>T | ENSP00000450472.1:p.Arg320Leu | |
| ENST00000555179.1:c.206+2097G>T | ||
| ENST00000557316.5:c.*990G>T | ENSP00000452314.1:n.*990G>T | |
| NM_000153.3:c.1592G>T | NP_000144.2:p.Arg531Leu | |
| NM_001201401.1:c.1523G>T | NP_001188330.1:p.Arg508Leu | |
| NM_001201402.1:c.1514G>T | NP_001188331.1:p.Arg505Leu | |
| XM_011536618.1:c.1424G>T | XP_011534920.1:p.Arg475Leu | |
| XM_011536618.2:c.1424G>T | XP_011534920.1:p.Arg475Leu | |
| NM_000153.4:c.1592G>T MANE Select | NP_000144.2:p.Arg531Leu | |
| NM_001201401.2:c.1523G>T | NP_001188330.1:p.Arg508Leu | |
| NM_001201402.2:c.1514G>T | NP_001188331.1:p.Arg505Leu |