Linked Data
ClinVar Variation Id:
1369176
dbSNP Id:
rs764259701
ExAC:
11:68201088 C / G
gnomAD v2:
11-68201088-C-G
gnomAD v3:
11-68433620-C-G
gnomAD v4:
11-68433620-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68433620C>G , CM000673.2:g.68433620C>G | GRCh38 |
| NC_000011.9:g.68201088C>G , CM000673.1:g.68201088C>G | GRCh37 |
| NC_000011.8:g.67957664C>G | NCBI36 |
| NG_015835.1:g.125981C>G | |
| NG_015835.2:g.125981C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.3782C>G MANE Select | ENSP00000294304.6:p.Pro1261Arg | |
| ENST00000294304.11:c.3782C>G | ENSP00000294304.6:p.Pro1261Arg | |
| ENST00000529993.5:c.*2388C>G | ENSP00000436652.1:n.*2388C>G | |
| NM_001291902.1:c.2039C>G | NP_001278831.1:p.Pro680Arg | |
| NM_002335.3:c.3782C>G | NP_002326.2:p.Pro1261Arg | |
| XM_005273994.2:c.3782C>G | XP_005274051.1:p.Pro1261Arg | |
| XM_011545029.1:c.3809C>G | XP_011543331.1:p.Pro1270Arg | |
| XM_011545030.1:c.3809C>G | XP_011543332.1:p.Pro1270Arg | |
| XM_011545031.1:c.3809C>G | XP_011543333.1:p.Pro1270Arg | |
| XR_949925.1:n.3824C>G | ||
| XR_949926.1:n.3824C>G | ||
| XM_017017735.1:c.2039C>G | XP_016873224.1:p.Pro680Arg | |
| XM_017017736.1:c.1322C>G | XP_016873225.1:p.Pro441Arg | |
| XR_949925.2:n.3824C>G | ||
| XR_949926.2:n.3824C>G | ||
| NM_002335.4:c.3782C>G MANE Select | NP_002326.2:p.Pro1261Arg | |
| NM_001291902.2:c.2039C>G | NP_001278831.1:p.Pro680Arg |