Linked Data
ClinVar Variation Id:
1059475
ClinVar RCV Id:
RCV001368764
dbSNP Id:
rs2129132447
gnomAD v4:
8-15540483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15540483G>A , CM000670.2:g.15540483G>A | GRCh38 |
| NC_000008.10:g.15397992G>A , CM000670.1:g.15397992G>A | GRCh37 |
| NC_000008.9:g.15442363G>A | NCBI36 |
| NG_012141.2:g.5263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503731.6:c.53G>A MANE Select | ENSP00000424544.1:p.Arg18Gln | |
| ENST00000382020.8:c.53G>A | ENSP00000371450.4:p.Arg18Gln | |
| ENST00000503191.5:n.189+57000G>A | ||
| ENST00000503731.5:c.53G>A | ENSP00000424544.1:p.Arg18Gln | |
| ENST00000506802.5:c.53G>A | ENSP00000425777.1:p.Arg18Gln | |
| ENST00000509380.5:c.53G>A | ENSP00000423426.1:p.Arg18Gln | |
| ENST00000510836.5:c.53G>A | ENSP00000426973.1:p.Arg18Gln | |
| ENST00000515859.5:c.53G>A | ENSP00000420829.1:p.Arg18Gln | |
| NM_006765.3:c.53G>A | NP_006756.2:p.Arg18Gln | |
| NM_178234.2:c.53G>A | NP_839952.1:p.Arg18Gln | |
| NM_001356429.1:c.53G>A | NP_001343358.1:p.Arg18Gln | |
| NM_001356429.2:c.53G>A | NP_001343358.1:p.Arg18Gln | |
| NM_006765.4:c.53G>A MANE Select | NP_006756.2:p.Arg18Gln |