Linked Data
ClinVar Variation Id:
1145127
ClinVar RCV Id:
RCV001483895
dbSNP Id:
rs573790143
ExAC:
17:73761065 C / A
gnomAD v2:
17-73761065-C-A
gnomAD v3:
17-75764984-C-A
gnomAD v4:
17-75764984-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75764984C>A , CM000679.2:g.75764984C>A | GRCh38 |
| NC_000017.10:g.73761065C>A , CM000679.1:g.73761065C>A | GRCh37 |
| NC_000017.9:g.71272660C>A | NCBI36 |
| NG_008079.1:g.5216G>T | |
| NG_008079.2:g.5216G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.153G>T | ENSP00000468341.2:p.Leu51= | |
| ENST00000592997.6:c.153G>T | ENSP00000464765.2:p.Leu51= | |
| ENST00000588479.6:c.153G>T MANE Select | ENSP00000465930.1:p.Leu51= | |
| ENST00000225614.6:c.153G>T | ENSP00000225614.1:p.Leu51= | |
| ENST00000586244.1:c.153G>T | ENSP00000468288.1:p.Leu51= | |
| ENST00000588479.5:c.153G>T | ENSP00000465930.1:p.Leu51= | |
| ENST00000589030.1:n.150G>T | ||
| ENST00000592494.1:n.174G>T | ||
| NM_000154.1:c.153G>T | NP_000145.1:p.Leu51= | |
| NM_000154.2:c.153G>T MANE Select | NP_000145.1:p.Leu51= | |
| NM_001381985.1:c.153G>T | NP_001368914.1:p.Leu51= |