Linked Data
ClinVar Variation Id:
348155
dbSNP Id:
rs549416247
ExAC:
4:17493884 C / G
gnomAD v2:
4-17493884-C-G
gnomAD v3:
4-17492261-C-G
gnomAD v4:
4-17492261-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17492261C>G , CM000666.2:g.17492261C>G | GRCh38 |
| NC_000004.11:g.17493884C>G , CM000666.1:g.17493884C>G | GRCh37 |
| NC_000004.10:g.17102982C>G | NCBI36 |
| NG_008763.1:g.24974G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706645.1:n.1563G>C | ||
| ENST00000281243.10:c.516G>C MANE Select | ENSP00000281243.5:p.Pro172= | |
| ENST00000281243.9:c.516G>C | ENSP00000281243.5:p.Pro172= | |
| ENST00000428702.6:c.423G>C | ENSP00000390944.2:p.Pro141= | |
| ENST00000501943.6:n.253G>C | ||
| ENST00000505710.1:c.364-1516G>C | ||
| ENST00000507439.5:c.437-1516G>C | ENSP00000423227.1:n.437-1516G>C | |
| ENST00000508623.5:c.437-5025G>C | ENSP00000426377.1:n.437-5025G>C | |
| ENST00000511609.1:n.248G>C | ||
| ENST00000513615.5:c.437-1516G>C | ENSP00000422759.1:n.437-1516G>C | |
| ENST00000514300.1:c.*368-1516G>C | ENSP00000426039.1:n.*368-1516G>C | |
| NM_000320.2:c.516G>C | NP_000311.2:p.Pro172= | |
| NM_001306140.1:c.423G>C | NP_001293069.1:p.Pro141= | |
| XR_241677.1:n.600-1516G>C | ||
| NR_156494.1:n.617-1516G>C | ||
| NM_000320.3:c.516G>C MANE Select | NP_000311.2:p.Pro172= | |
| NM_001306140.2:c.423G>C | NP_001293069.1:p.Pro141= | |
| NR_156494.2:n.473-1516G>C |