Linked Data
ClinVar Variation Id:
3865
dbSNP Id:
rs121908000
gnomAD v2:
13-52532679-A-G
gnomAD v3:
13-51958543-A-G
gnomAD v4:
13-51958543-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51958543A>G , CM000675.2:g.51958543A>G | GRCh38 |
| NC_000013.10:g.52532679A>G , CM000675.1:g.52532679A>G | GRCh37 |
| NC_000013.9:g.51430680A>G | NCBI36 |
| NG_008806.1:g.57952T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.1948T>C | ENSP00000489512.2:p.Ser650Pro | |
| ENST00000673864.2:c.*867T>C | ENSP00000501045.2:n.*867T>C | |
| ENST00000674147.2:c.1870-936T>C | ENSP00000500964.2:n.1870-936T>C | |
| ENST00000242839.10:c.2123T>C MANE Select | ENSP00000242839.5:p.Leu708Pro | |
| ENST00000344297.9:c.1870-936T>C | ENSP00000342559.5:n.1870-936T>C | |
| ENST00000400366.6:c.1790T>C | ENSP00000383217.3:p.Leu597Pro | |
| ENST00000448424.7:c.1871T>C | ENSP00000416738.3:p.Leu624Pro | |
| ENST00000673772.1:c.2122-936T>C | ENSP00000501168.1:n.2122-936T>C | |
| ENST00000674147.1:c.1426-936T>C | ENSP00000500964.1:n.1426-936T>C | |
| ENST00000242839.8:c.2123T>C | ENSP00000242839.4:p.Leu708Pro | |
| ENST00000344297.8:c.1870-936T>C | ENSP00000342559.5:n.1870-936T>C | |
| ENST00000400366.5:c.1790T>C | ENSP00000383217.3:p.Leu597Pro | |
| ENST00000400370.8:c.1286-8382T>C | ENSP00000383221.3:n.1286-8382T>C | |
| ENST00000418097.7:c.2123T>C | ENSP00000393343.2:p.Leu708Pro | |
| ENST00000448424.6:c.2122-936T>C | ENSP00000416738.2:n.2122-936T>C | |
| ENST00000482841.6:n.1666T>C | ||
| ENST00000634296.1:c.84T>C | ||
| ENST00000634308.1:c.2122-936T>C | ENSP00000489234.1:n.2122-936T>C | |
| ENST00000634620.1:n.2218T>C | ||
| ENST00000634810.1:n.1468T>C | ||
| ENST00000634844.1:c.2122-143T>C | ENSP00000489398.1:n.2122-143T>C | |
| ENST00000635406.1:n.212-12065T>C | ||
| NM_000053.3:c.2123T>C | NP_000044.2:p.Leu708Pro | |
| NM_001005918.2:c.1870-936T>C | NP_001005918.1:n.1870-936T>C | |
| NM_001243182.1:c.1790T>C | NP_001230111.1:p.Leu597Pro | |
| XM_005266423.2:c.2027T>C | XP_005266480.1:p.Leu676Pro | |
| XM_005266424.3:c.2027T>C | XP_005266481.1:p.Leu676Pro | |
| XM_005266427.2:c.2122-936T>C | XP_005266484.1:n.2122-936T>C | |
| XM_005266428.1:c.1871T>C | XP_005266485.1:p.Leu624Pro | |
| XM_005266430.3:c.2123T>C | XP_005266487.1:p.Leu708Pro | |
| XM_005266431.2:c.2087T>C | XP_005266488.1:p.Leu696Pro | |
| XM_005266432.2:c.1870-936T>C | XP_005266489.1:n.1870-936T>C | |
| XM_006719837.2:c.2027T>C | XP_006719900.1:p.Leu676Pro | |
| XM_006719838.1:c.-62T>C | XP_006719901.1:n.-62T>C | |
| XM_006719839.1:c.-62T>C | XP_006719902.1:n.-62T>C | |
| XM_011535117.1:c.2027T>C | XP_011533419.1:p.Leu676Pro | |
| XM_011535118.1:c.2123T>C | XP_011533420.1:p.Leu708Pro | |
| XM_011535119.1:c.2123T>C | XP_011533421.1:p.Leu708Pro | |
| XM_011535120.1:c.1709T>C | XP_011533422.1:p.Leu570Pro | |
| XM_011535121.1:c.2123T>C | XP_011533423.1:p.Leu708Pro | |
| XM_011535122.1:c.791T>C | XP_011533424.1:p.Leu264Pro | |
| XR_941601.1:n.2342T>C | ||
| XR_941602.1:n.2342T>C | ||
| XR_941603.1:n.2342T>C | ||
| XR_941604.1:n.2342T>C | ||
| NM_001330578.1:c.2122-936T>C | NP_001317507.1:n.2122-936T>C | |
| NM_001330579.1:c.1871T>C | NP_001317508.1:p.Leu624Pro | |
| XM_005266424.4:c.2027T>C | XP_005266481.1:p.Leu676Pro | |
| XM_005266430.4:c.2123T>C | XP_005266487.1:p.Leu708Pro | |
| XM_005266431.4:c.2087T>C | XP_005266488.1:p.Leu696Pro | |
| XM_006719837.3:c.2027T>C | XP_006719900.1:p.Leu676Pro | |
| XM_011535117.3:c.2027T>C | XP_011533419.1:p.Leu676Pro | |
| XM_017020627.1:c.2027T>C | XP_016876116.1:p.Leu676Pro | |
| NM_000053.4:c.2123T>C MANE Select | NP_000044.2:p.Leu708Pro | |
| NM_001005918.3:c.1870-936T>C | NP_001005918.1:n.1870-936T>C | |
| NM_001330579.2:c.1871T>C | NP_001317508.1:p.Leu624Pro | |
| NM_001243182.2:c.1790T>C | NP_001230111.1:p.Leu597Pro | |
| NM_001330578.2:c.2122-936T>C | NP_001317507.1:n.2122-936T>C |