Linked Data
dbSNP Id:
rs746248057
ExAC:
11:68704492 C / G
gnomAD v2:
11-68704492-C-G
gnomAD v3:
11-68937024-C-G
gnomAD v4:
11-68937024-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68937024C>G , CM000673.2:g.68937024C>G | GRCh38 |
| NC_000011.9:g.68704492C>G , CM000673.1:g.68704492C>G | GRCh37 |
| NC_000011.8:g.68461068C>G | NCBI36 |
| NG_007976.1:g.38174C>G , LRG_250:g.38174C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2544C>G MANE Select | ENSP00000255078.4:p.Pro848= | |
| ENST00000674675.1:c.689C>G | ||
| ENST00000674878.1:c.649C>G | ||
| ENST00000675118.1:c.2032C>G | ||
| ENST00000675389.1:n.819C>G | ||
| ENST00000675615.1:c.2544C>G | ENSP00000502413.1:p.Pro848= | |
| ENST00000675648.1:n.1919C>G | ||
| ENST00000675916.1:c.788C>G | ||
| ENST00000676173.1:n.3289C>G | ||
| ENST00000676182.1:c.975C>G | ||
| ENST00000676228.1:c.*1867C>G | ENSP00000502375.1:n.*1867C>G | |
| ENST00000255078.7:c.2544C>G | ENSP00000255078.3:p.Pro848= | |
| ENST00000539064.5:n.2303C>G | ||
| ENST00000543739.5:n.1537C>G | ||
| NM_002180.2:c.2544C>G , LRG_250t1:c.2544C>G | NP_002171.2:p.Pro848= | |
| XM_005273974.2:c.1533C>G | XP_005274031.1:p.Pro511= | |
| XM_005273975.2:c.1416C>G | XP_005274032.1:p.Pro472= | |
| XM_011544994.1:c.1311C>G | XP_011543296.1:p.Pro437= | |
| XR_949903.1:n.2646C>G | ||
| XM_005273975.3:c.1416C>G | XP_005274032.1:p.Pro472= | |
| XM_017017669.2:c.1533C>G | XP_016873158.1:p.Pro511= | |
| XM_017017670.2:c.1533C>G | XP_016873159.1:p.Pro511= | |
| XR_949903.3:n.2642C>G | ||
| NM_002180.3:c.2544C>G MANE Select | NP_002171.2:p.Pro848= |