Linked Data
ClinVar Variation Id:
650321
ClinVar RCV Id:
RCV000805449
dbSNP Id:
rs1438075631
gnomAD v4:
11-68936866-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936866C>G , CM000673.2:g.68936866C>G | GRCh38 |
| NC_000011.9:g.68704334C>G , CM000673.1:g.68704334C>G | GRCh37 |
| NC_000011.8:g.68460910C>G | NCBI36 |
| NG_007976.1:g.38016C>G , LRG_250:g.38016C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2386C>G MANE Select | ENSP00000255078.4:p.Pro796Ala | |
| ENST00000674675.1:c.587+43C>G | ||
| ENST00000674878.1:c.548-57C>G | ||
| ENST00000675118.1:c.1874C>G | ||
| ENST00000675389.1:n.661C>G | ||
| ENST00000675615.1:c.2386C>G | ENSP00000502413.1:p.Pro796Ala | |
| ENST00000675648.1:n.1761C>G | ||
| ENST00000675916.1:c.630C>G | ||
| ENST00000676173.1:n.3131C>G | ||
| ENST00000676182.1:c.817C>G | ||
| ENST00000676228.1:c.*1709C>G | ENSP00000502375.1:n.*1709C>G | |
| ENST00000255078.7:c.2386C>G | ENSP00000255078.3:p.Pro796Ala | |
| ENST00000539064.5:n.2145C>G | ||
| ENST00000543739.5:n.1379C>G | ||
| NM_002180.2:c.2386C>G , LRG_250t1:c.2386C>G | NP_002171.2:p.Pro796Ala | |
| XM_005273974.2:c.1375C>G | XP_005274031.1:p.Pro459Ala | |
| XM_005273975.2:c.1258C>G | XP_005274032.1:p.Pro420Ala | |
| XM_011544994.1:c.1153C>G | XP_011543296.1:p.Pro385Ala | |
| XR_949903.1:n.2488C>G | ||
| XM_005273975.3:c.1258C>G | XP_005274032.1:p.Pro420Ala | |
| XM_017017669.2:c.1375C>G | XP_016873158.1:p.Pro459Ala | |
| XM_017017670.2:c.1375C>G | XP_016873159.1:p.Pro459Ala | |
| XR_949903.3:n.2484C>G | ||
| NM_002180.3:c.2386C>G MANE Select | NP_002171.2:p.Pro796Ala |