Linked Data
ClinVar Variation Id:
2642047
dbSNP Id:
rs2154008920
MyVariant Identifiers:
chr11:g.68704405C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936937C>G , CM000673.2:g.68936937C>G | GRCh38 |
| NC_000011.9:g.68704405C>G , CM000673.1:g.68704405C>G | GRCh37 |
| NC_000011.8:g.68460981C>G | NCBI36 |
| NG_007976.1:g.38087C>G , LRG_250:g.38087C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2457C>G MANE Select | ENSP00000255078.4:p.Pro819= | |
| ENST00000674675.1:c.602C>G | ||
| ENST00000674878.1:c.562C>G | ||
| ENST00000675118.1:c.1945C>G | ||
| ENST00000675389.1:n.732C>G | ||
| ENST00000675615.1:c.2457C>G | ENSP00000502413.1:p.Pro819= | |
| ENST00000675648.1:n.1832C>G | ||
| ENST00000675916.1:c.701C>G | ||
| ENST00000676173.1:n.3202C>G | ||
| ENST00000676182.1:c.888C>G | ||
| ENST00000676228.1:c.*1780C>G | ENSP00000502375.1:n.*1780C>G | |
| ENST00000255078.7:c.2457C>G | ENSP00000255078.3:p.Pro819= | |
| ENST00000539064.5:n.2216C>G | ||
| ENST00000543739.5:n.1450C>G | ||
| NM_002180.2:c.2457C>G , LRG_250t1:c.2457C>G | NP_002171.2:p.Pro819= | |
| XM_005273974.2:c.1446C>G | XP_005274031.1:p.Pro482= | |
| XM_005273975.2:c.1329C>G | XP_005274032.1:p.Pro443= | |
| XM_011544994.1:c.1224C>G | XP_011543296.1:p.Pro408= | |
| XR_949903.1:n.2559C>G | ||
| XM_005273975.3:c.1329C>G | XP_005274032.1:p.Pro443= | |
| XM_017017669.2:c.1446C>G | XP_016873158.1:p.Pro482= | |
| XM_017017670.2:c.1446C>G | XP_016873159.1:p.Pro482= | |
| XR_949903.3:n.2555C>G | ||
| NM_002180.3:c.2457C>G MANE Select | NP_002171.2:p.Pro819= |