Linked Data
ClinVar Variation Id:
1407650
ClinVar RCV Id:
RCV001918555
dbSNP Id:
rs373601229
ExAC:
13:52518318 A / G
gnomAD v2:
13-52518318-A-G
gnomAD v3:
13-51944182-A-G
gnomAD v4:
13-51944182-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944182A>G , CM000675.2:g.51944182A>G | GRCh38 |
| NC_000013.10:g.52518318A>G , CM000675.1:g.52518318A>G | GRCh37 |
| NC_000013.9:g.51416319A>G | NCBI36 |
| NG_008806.1:g.72313T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1628T>C | ENSP00000489512.2:n.*894-1628T>C | |
| ENST00000673864.2:c.*1914T>C | ENSP00000501045.2:n.*1914T>C | |
| ENST00000674147.2:c.2549T>C | ENSP00000500964.2:p.Leu850Pro | |
| ENST00000242839.10:c.3170T>C MANE Select | ENSP00000242839.5:p.Leu1057Pro | |
| ENST00000344297.9:c.2549T>C | ENSP00000342559.5:p.Leu850Pro | |
| ENST00000400366.6:c.2837T>C | ENSP00000383217.3:p.Leu946Pro | |
| ENST00000448424.7:c.2918T>C | ENSP00000416738.3:p.Leu973Pro | |
| ENST00000673772.1:c.2936T>C | ENSP00000501168.1:p.Leu979Pro | |
| ENST00000673867.1:n.3309T>C | ||
| ENST00000674126.1:n.3533T>C | ||
| ENST00000674147.1:c.2105T>C | ENSP00000500964.1:p.Leu702Pro | |
| ENST00000242839.8:c.3170T>C | ENSP00000242839.4:p.Leu1057Pro | |
| ENST00000344297.8:c.2549T>C | ENSP00000342559.5:p.Leu850Pro | |
| ENST00000400366.5:c.2837T>C | ENSP00000383217.3:p.Leu946Pro | |
| ENST00000400370.8:c.1880T>C | ENSP00000383221.3:p.Leu627Pro | |
| ENST00000418097.7:c.2975T>C | ENSP00000393343.2:p.Leu992Pro | |
| ENST00000448424.6:c.2936T>C | ENSP00000416738.2:p.Leu979Pro | |
| ENST00000466629.1:n.390T>C | ||
| ENST00000634296.1:c.1022-1628T>C | ||
| ENST00000634308.1:c.*271T>C | ENSP00000489234.1:n.*271T>C | |
| ENST00000634620.1:n.3914T>C | ||
| ENST00000634810.1:n.2515T>C | ||
| ENST00000634844.1:c.3026T>C | ENSP00000489398.1:p.Leu1009Pro | |
| NM_000053.3:c.3170T>C | NP_000044.2:p.Leu1057Pro | |
| NM_001005918.2:c.2549T>C | NP_001005918.1:p.Leu850Pro | |
| NM_001243182.1:c.2837T>C | NP_001230111.1:p.Leu946Pro | |
| XM_005266423.2:c.3074T>C | XP_005266480.1:p.Leu1025Pro | |
| XM_005266424.3:c.3074T>C | XP_005266481.1:p.Leu1025Pro | |
| XM_005266427.2:c.2936T>C | XP_005266484.1:p.Leu979Pro | |
| XM_005266428.1:c.2918T>C | XP_005266485.1:p.Leu973Pro | |
| XM_005266430.3:c.3170T>C | XP_005266487.1:p.Leu1057Pro | |
| XM_005266431.2:c.3134T>C | XP_005266488.1:p.Leu1045Pro | |
| XM_005266432.2:c.2684T>C | XP_005266489.1:p.Leu895Pro | |
| XM_006719837.2:c.3074T>C | XP_006719900.1:p.Leu1025Pro | |
| XM_006719838.1:c.986T>C | XP_006719901.1:p.Leu329Pro | |
| XM_006719839.1:c.877-1628T>C | XP_006719902.1:n.877-1628T>C | |
| XM_011535117.1:c.3074T>C | XP_011533419.1:p.Leu1025Pro | |
| XM_011535118.1:c.3035T>C | XP_011533420.1:p.Leu1012Pro | |
| XM_011535119.1:c.3061-1628T>C | XP_011533421.1:n.3061-1628T>C | |
| XM_011535120.1:c.2756T>C | XP_011533422.1:p.Leu919Pro | |
| XM_011535121.1:c.2731-1628T>C | XP_011533423.1:n.2731-1628T>C | |
| XM_011535122.1:c.1838T>C | XP_011533424.1:p.Leu613Pro | |
| XR_941601.1:n.3389T>C | ||
| XR_941602.1:n.3389T>C | ||
| XR_941603.1:n.3389T>C | ||
| XR_941604.1:n.3389T>C | ||
| NM_001330578.1:c.2936T>C | NP_001317507.1:p.Leu979Pro | |
| NM_001330579.1:c.2918T>C | NP_001317508.1:p.Leu973Pro | |
| XM_005266424.4:c.3074T>C | XP_005266481.1:p.Leu1025Pro | |
| XM_005266430.4:c.3170T>C | XP_005266487.1:p.Leu1057Pro | |
| XM_005266431.4:c.3134T>C | XP_005266488.1:p.Leu1045Pro | |
| XM_006719837.3:c.3074T>C | XP_006719900.1:p.Leu1025Pro | |
| XM_011535117.3:c.3074T>C | XP_011533419.1:p.Leu1025Pro | |
| XM_017020627.1:c.3074T>C | XP_016876116.1:p.Leu1025Pro | |
| NM_000053.4:c.3170T>C MANE Select | NP_000044.2:p.Leu1057Pro | |
| NM_001005918.3:c.2549T>C | NP_001005918.1:p.Leu850Pro | |
| NM_001330579.2:c.2918T>C | NP_001317508.1:p.Leu973Pro | |
| NM_001243182.2:c.2837T>C | NP_001230111.1:p.Leu946Pro | |
| NM_001330578.2:c.2936T>C | NP_001317507.1:p.Leu979Pro |