Linked Data
ClinVar Variation Id:
358939
dbSNP Id:
rs147444165
ExAC:
7:130038845 A / G
gnomAD v2:
7-130038845-A-G
gnomAD v3:
7-130399004-A-G
gnomAD v4:
7-130399004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130399004A>G , CM000669.2:g.130399004A>G | GRCh38 |
| NC_000007.13:g.130038845A>G , CM000669.1:g.130038845A>G | GRCh37 |
| NC_000007.12:g.129826081A>G | NCBI36 |
| NG_032164.1:g.47207T>C | |
| NG_032164.2:g.47207T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.1009T>C MANE Select | ENSP00000223208.4:p.Ser337Pro | |
| ENST00000343969.10:c.802T>C | ENSP00000342738.6:p.Ser268Pro | |
| ENST00000480206.2:c.*1521T>C | ENSP00000502099.1:n.*1521T>C | |
| ENST00000484549.6:c.*1181T>C | ENSP00000419078.2:n.*1181T>C | |
| ENST00000492389.6:c.813T>C | ENSP00000419192.2:n.813T>C | |
| ENST00000541543.6:c.1000T>C | ENSP00000445888.2:p.Ser334Pro | |
| ENST00000674539.1:c.*17T>C | ENSP00000502834.1:n.*17T>C | |
| ENST00000674630.1:c.*555T>C | ENSP00000502521.1:n.*555T>C | |
| ENST00000675138.1:c.1054T>C | ENSP00000501597.1:p.Ser352Pro | |
| ENST00000675168.1:c.961T>C | ENSP00000501563.1:p.Ser321Pro | |
| ENST00000675328.1:n.819T>C | ||
| ENST00000675542.1:n.974T>C | ||
| ENST00000675563.1:c.400T>C | ENSP00000502483.1:p.Ser134Pro | |
| ENST00000675596.1:c.793T>C | ENSP00000501735.1:p.Ser265Pro | |
| ENST00000675649.1:c.826T>C | ENSP00000502385.1:p.Ser276Pro | |
| ENST00000675721.1:c.*952T>C | ENSP00000502026.1:n.*952T>C | |
| ENST00000675803.1:c.970T>C | ENSP00000502477.1:p.Ser324Pro | |
| ENST00000675813.1:c.*913T>C | ENSP00000502785.1:n.*913T>C | |
| ENST00000675935.1:c.1000T>C | ENSP00000501731.1:p.Ser334Pro | |
| ENST00000675962.1:c.745T>C | ENSP00000502478.1:p.Ser249Pro | |
| ENST00000676115.1:c.*930T>C | ENSP00000502631.1:n.*930T>C | |
| ENST00000676243.1:c.1018T>C | ENSP00000501717.1:p.Ser340Pro | |
| ENST00000676312.1:c.970T>C | ENSP00000502312.1:p.Ser324Pro | |
| ENST00000223208.9:c.1009T>C | ENSP00000223208.4:p.Ser337Pro | |
| ENST00000343969.9:c.793T>C | ENSP00000342738.5:p.Ser265Pro | |
| ENST00000484549.5:c.*555T>C | ENSP00000419078.1:n.*555T>C | |
| ENST00000485736.5:n.692T>C | ||
| ENST00000541543.5:c.745T>C | ENSP00000445888.1:p.Ser249Pro | |
| ENST00000603513.1:n.2206T>C | ||
| NM_001257158.1:c.793T>C | NP_001244087.1:p.Ser265Pro | |
| NM_001257159.1:c.745T>C | NP_001244088.1:p.Ser249Pro | |
| NM_018718.2:c.1009T>C | NP_061188.1:p.Ser337Pro | |
| NR_046443.1:n.1177T>C | ||
| XM_011516708.1:c.1054T>C | XP_011515010.1:p.Ser352Pro | |
| XM_011516709.1:c.904T>C | XP_011515011.1:p.Ser302Pro | |
| XM_011516710.1:c.904T>C | XP_011515012.1:p.Ser302Pro | |
| XM_011516711.1:c.904T>C | XP_011515013.1:p.Ser302Pro | |
| XM_011516712.1:c.838T>C | XP_011515014.1:p.Ser280Pro | |
| XM_011516709.3:c.904T>C | XP_011515011.1:p.Ser302Pro | |
| XM_011516710.3:c.904T>C | XP_011515012.1:p.Ser302Pro | |
| XM_024447004.1:c.970T>C | XP_024302772.1:p.Ser324Pro | |
| NM_018718.3:c.1009T>C MANE Select | NP_061188.1:p.Ser337Pro | |
| NM_001257158.2:c.793T>C | NP_001244087.1:p.Ser265Pro | |
| NR_046443.2:n.983T>C | ||
| NM_001257159.2:c.745T>C | NP_001244088.1:p.Ser249Pro |