Linked Data
ClinVar Variation Id:
899739
ClinVar RCV Id:
RCV001144502
dbSNP Id:
rs761732291
ExAC:
4:17493914 C / G
gnomAD v2:
4-17493914-C-G
gnomAD v4:
4-17492291-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17492291C>G , CM000666.2:g.17492291C>G | GRCh38 |
| NC_000004.11:g.17493914C>G , CM000666.1:g.17493914C>G | GRCh37 |
| NC_000004.10:g.17103012C>G | NCBI36 |
| NG_008763.1:g.24944G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706645.1:n.1533G>C | ||
| ENST00000281243.10:c.486G>C MANE Select | ENSP00000281243.5:p.Gln162His | |
| ENST00000281243.9:c.486G>C | ENSP00000281243.5:p.Gln162His | |
| ENST00000428702.6:c.393G>C | ENSP00000390944.2:p.Gln131His | |
| ENST00000501943.6:n.223G>C | ||
| ENST00000505710.1:c.364-1546G>C | ||
| ENST00000507439.5:c.437-1546G>C | ENSP00000423227.1:n.437-1546G>C | |
| ENST00000508623.5:c.437-5055G>C | ENSP00000426377.1:n.437-5055G>C | |
| ENST00000511609.1:n.218G>C | ||
| ENST00000513615.5:c.437-1546G>C | ENSP00000422759.1:n.437-1546G>C | |
| ENST00000514300.1:c.*368-1546G>C | ENSP00000426039.1:n.*368-1546G>C | |
| NM_000320.2:c.486G>C | NP_000311.2:p.Gln162His | |
| NM_001306140.1:c.393G>C | NP_001293069.1:p.Gln131His | |
| XR_241677.1:n.600-1546G>C | ||
| NR_156494.1:n.617-1546G>C | ||
| NM_000320.3:c.486G>C MANE Select | NP_000311.2:p.Gln162His | |
| NM_001306140.2:c.393G>C | NP_001293069.1:p.Gln131His | |
| NR_156494.2:n.473-1546G>C |