Linked Data
ClinVar Variation Id:
358941
dbSNP Id:
rs368525533
ExAC:
7:130038866 C / G
gnomAD v2:
7-130038866-C-G
gnomAD v3:
7-130399025-C-G
gnomAD v4:
7-130399025-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130399025C>G , CM000669.2:g.130399025C>G | GRCh38 |
| NC_000007.13:g.130038866C>G , CM000669.1:g.130038866C>G | GRCh37 |
| NC_000007.12:g.129826102C>G | NCBI36 |
| NG_032164.1:g.47186G>C | |
| NG_032164.2:g.47186G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.988G>C MANE Select | ENSP00000223208.4:p.Ala330Pro | |
| ENST00000343969.10:c.781G>C | ENSP00000342738.6:p.Ala261Pro | |
| ENST00000480206.2:c.*1500G>C | ENSP00000502099.1:n.*1500G>C | |
| ENST00000484549.6:c.*1160G>C | ENSP00000419078.2:n.*1160G>C | |
| ENST00000492389.6:c.792G>C | ENSP00000419192.2:n.792G>C | |
| ENST00000541543.6:c.979G>C | ENSP00000445888.2:p.Ala327Pro | |
| ENST00000674539.1:c.437G>C | ENSP00000502834.1:p.Ser146Thr | |
| ENST00000674630.1:c.*534G>C | ENSP00000502521.1:n.*534G>C | |
| ENST00000675138.1:c.1033G>C | ENSP00000501597.1:p.Ala345Pro | |
| ENST00000675168.1:c.940G>C | ENSP00000501563.1:p.Ala314Pro | |
| ENST00000675328.1:n.798G>C | ||
| ENST00000675542.1:n.953G>C | ||
| ENST00000675563.1:c.379G>C | ENSP00000502483.1:p.Ala127Pro | |
| ENST00000675596.1:c.772G>C | ENSP00000501735.1:p.Ala258Pro | |
| ENST00000675649.1:c.805G>C | ENSP00000502385.1:p.Ala269Pro | |
| ENST00000675721.1:c.*931G>C | ENSP00000502026.1:n.*931G>C | |
| ENST00000675803.1:c.949G>C | ENSP00000502477.1:p.Ala317Pro | |
| ENST00000675813.1:c.*892G>C | ENSP00000502785.1:n.*892G>C | |
| ENST00000675935.1:c.979G>C | ENSP00000501731.1:p.Ala327Pro | |
| ENST00000675962.1:c.724G>C | ENSP00000502478.1:p.Ala242Pro | |
| ENST00000676115.1:c.*909G>C | ENSP00000502631.1:n.*909G>C | |
| ENST00000676243.1:c.997G>C | ENSP00000501717.1:p.Ala333Pro | |
| ENST00000676312.1:c.949G>C | ENSP00000502312.1:p.Ala317Pro | |
| ENST00000223208.9:c.988G>C | ENSP00000223208.4:p.Ala330Pro | |
| ENST00000343969.9:c.772G>C | ENSP00000342738.5:p.Ala258Pro | |
| ENST00000484549.5:c.*534G>C | ENSP00000419078.1:n.*534G>C | |
| ENST00000485736.5:n.671G>C | ||
| ENST00000541543.5:c.724G>C | ENSP00000445888.1:p.Ala242Pro | |
| ENST00000603513.1:n.2185G>C | ||
| NM_001257158.1:c.772G>C | NP_001244087.1:p.Ala258Pro | |
| NM_001257159.1:c.724G>C | NP_001244088.1:p.Ala242Pro | |
| NM_018718.2:c.988G>C | NP_061188.1:p.Ala330Pro | |
| NR_046443.1:n.1156G>C | ||
| XM_011516708.1:c.1033G>C | XP_011515010.1:p.Ala345Pro | |
| XM_011516709.1:c.883G>C | XP_011515011.1:p.Ala295Pro | |
| XM_011516710.1:c.883G>C | XP_011515012.1:p.Ala295Pro | |
| XM_011516711.1:c.883G>C | XP_011515013.1:p.Ala295Pro | |
| XM_011516712.1:c.817G>C | XP_011515014.1:p.Ala273Pro | |
| XM_011516709.3:c.883G>C | XP_011515011.1:p.Ala295Pro | |
| XM_011516710.3:c.883G>C | XP_011515012.1:p.Ala295Pro | |
| XM_024447004.1:c.949G>C | XP_024302772.1:p.Ala317Pro | |
| NM_018718.3:c.988G>C MANE Select | NP_061188.1:p.Ala330Pro | |
| NM_001257158.2:c.772G>C | NP_001244087.1:p.Ala258Pro | |
| NR_046443.2:n.962G>C | ||
| NM_001257159.2:c.724G>C | NP_001244088.1:p.Ala242Pro |