Linked Data
ClinVar Variation Id:
2134
dbSNP Id:
rs61495246
ExAC:
11:14907393 A / G
gnomAD v2:
11-14907393-A-G
gnomAD v3:
11-14885847-A-G
gnomAD v4:
11-14885847-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14885847A>G , CM000673.2:g.14885847A>G | GRCh38 |
| NC_000011.9:g.14907393A>G , CM000673.1:g.14907393A>G | GRCh37 |
| NC_000011.8:g.14863969A>G | NCBI36 |
| NG_007936.1:g.11359T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334636.10:c.296T>C MANE Select | ENSP00000334592.5:p.Leu99Pro | |
| ENST00000334636.9:c.296T>C | ENSP00000334592.5:p.Leu99Pro | |
| ENST00000526276.5:n.200T>C | ||
| ENST00000526489.5:n.171T>C | ||
| ENST00000529043.1:n.276T>C | ||
| ENST00000530609.5:c.6T>C | ENSP00000466060.1:p.Pro2= | |
| ENST00000532378.5:c.6T>C | ENSP00000435484.1:p.Pro2= | |
| ENST00000532641.1:n.131T>C | ||
| ENST00000532805.1:c.6T>C | ENSP00000465097.1:p.Pro2= | |
| ENST00000534686.5:c.6T>C | ENSP00000432087.2:p.Pro2= | |
| NM_024514.4:c.296T>C | NP_078790.2:p.Leu99Pro | |
| XM_005252788.1:c.152T>C | XP_005252845.1:p.Leu51Pro | |
| XM_005252789.2:c.134T>C | XP_005252846.1:p.Leu45Pro | |
| XM_005252791.3:c.-50T>C | XP_005252848.1:n.-50T>C | |
| XM_006718142.2:c.251T>C | XP_006718205.1:p.Leu84Pro | |
| XM_011519894.1:c.-50T>C | XP_011518196.1:n.-50T>C | |
| XM_011519895.1:c.-50T>C | XP_011518197.1:n.-50T>C | |
| XM_011519896.1:c.-50T>C | XP_011518198.1:n.-50T>C | |
| XM_011519897.1:c.-50T>C | XP_011518199.1:n.-50T>C | |
| XM_011519898.1:c.-50T>C | XP_011518200.1:n.-50T>C | |
| XR_242777.2:n.349T>C | ||
| XM_005252788.2:c.152T>C | XP_005252845.1:p.Leu51Pro | |
| XM_005252789.3:c.134T>C | XP_005252846.1:p.Leu45Pro | |
| XM_011519895.2:c.-50T>C | XP_011518197.1:n.-50T>C | |
| XM_011519898.3:c.-50T>C | XP_011518200.1:n.-50T>C | |
| XM_017017190.2:c.131T>C | XP_016872679.1:p.Leu44Pro | |
| XM_017017191.2:c.-50T>C | XP_016872680.1:n.-50T>C | |
| XM_017017192.2:c.-50T>C | XP_016872681.1:n.-50T>C | |
| XM_017017193.2:c.-50T>C | XP_016872682.1:n.-50T>C | |
| XM_017017194.2:c.-50T>C | XP_016872683.1:n.-50T>C | |
| XM_024448345.1:c.131T>C | XP_024304113.1:p.Leu44Pro | |
| XM_024448346.1:c.-50T>C | XP_024304114.1:n.-50T>C | |
| XM_024448347.1:c.-50T>C | XP_024304115.1:n.-50T>C | |
| XM_024448348.1:c.-50T>C | XP_024304116.1:n.-50T>C | |
| XR_002957123.1:n.312T>C | ||
| XR_002957124.1:n.578T>C | ||
| XR_242777.3:n.349T>C | ||
| NM_001377214.1:c.-50T>C | NP_001364143.1:n.-50T>C | |
| NM_001377215.1:c.-50T>C | NP_001364144.1:n.-50T>C | |
| NM_001377216.1:c.-50T>C | NP_001364145.1:n.-50T>C | |
| NM_001377217.1:c.134T>C | NP_001364146.1:p.Leu45Pro | |
| NM_001377227.1:c.-50T>C | NP_001364156.1:n.-50T>C | |
| NM_024514.5:c.296T>C MANE Select | NP_078790.2:p.Leu99Pro | |
| NM_001400558.1:c.-50T>C | NP_001387487.1:n.-50T>C | |
| NM_001400559.1:c.-50T>C | NP_001387488.1:n.-50T>C | |
| NM_001400560.1:c.-50T>C | NP_001387489.1:n.-50T>C | |
| NM_001400561.1:c.-50T>C | NP_001387490.1:n.-50T>C | |
| NM_001400562.1:c.6T>C | NP_001387491.1:p.Pro2= | |
| NM_001400563.1:c.6T>C | NP_001387492.1:p.Pro2= | |
| NM_001400564.1:c.6T>C | NP_001387493.1:p.Pro2= | |
| NM_001400565.1:c.6T>C | NP_001387494.1:p.Pro2= | |
| NM_001400566.1:c.-50T>C | NP_001387495.1:n.-50T>C | |
| NM_001400567.1:c.152T>C | NP_001387496.1:p.Leu51Pro | |
| NM_001400568.1:c.251T>C | NP_001387497.1:p.Leu84Pro | |
| NR_174512.1:n.1032T>C | ||
| NR_174513.1:n.881T>C | ||
| NR_174514.1:n.1032T>C | ||
| NR_174515.1:n.1032T>C | ||
| NR_174516.1:n.843T>C | ||
| NR_174517.1:n.379T>C | ||
| NR_174518.1:n.843T>C | ||
| NR_174519.1:n.590T>C | ||
| NR_174520.1:n.790T>C | ||
| NR_174521.1:n.881T>C | ||
| NR_174522.1:n.379T>C | ||
| NR_174523.1:n.790T>C |