Linked Data
ClinVar Variation Id:
1492868
ClinVar RCV Id:
RCV001983936
dbSNP Id:
rs144673363
ExAC:
4:17493963 C / G
gnomAD v2:
4-17493963-C-G
gnomAD v3:
4-17492340-C-G
gnomAD v4:
4-17492340-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17492340C>G , CM000666.2:g.17492340C>G | GRCh38 |
| NC_000004.11:g.17493963C>G , CM000666.1:g.17493963C>G | GRCh37 |
| NC_000004.10:g.17103061C>G | NCBI36 |
| NG_008763.1:g.24895G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706645.1:n.1484G>C | ||
| ENST00000281243.10:c.437G>C MANE Select | ENSP00000281243.5:p.Gly146Ala | |
| ENST00000281243.9:c.437G>C | ENSP00000281243.5:p.Gly146Ala | |
| ENST00000428702.6:c.344G>C | ENSP00000390944.2:p.Gly115Ala | |
| ENST00000501943.6:n.174G>C | ||
| ENST00000505710.1:c.364-1595G>C | ||
| ENST00000507439.5:c.437-1595G>C | ENSP00000423227.1:n.437-1595G>C | |
| ENST00000508623.5:c.437-5104G>C | ENSP00000426377.1:n.437-5104G>C | |
| ENST00000511609.1:n.169G>C | ||
| ENST00000513615.5:c.437-1595G>C | ENSP00000422759.1:n.437-1595G>C | |
| ENST00000514300.1:c.*368-1595G>C | ENSP00000426039.1:n.*368-1595G>C | |
| NM_000320.2:c.437G>C | NP_000311.2:p.Gly146Ala | |
| NM_001306140.1:c.344G>C | NP_001293069.1:p.Gly115Ala | |
| XR_241677.1:n.600-1595G>C | ||
| NR_156494.1:n.617-1595G>C | ||
| NM_000320.3:c.437G>C MANE Select | NP_000311.2:p.Gly146Ala | |
| NM_001306140.2:c.344G>C | NP_001293069.1:p.Gly115Ala | |
| NR_156494.2:n.473-1595G>C |