Linked Data
dbSNP Id:
rs61744566
ExAC:
11:14907366 T / C
gnomAD v2:
11-14907366-T-C
gnomAD v3:
11-14885820-T-C
gnomAD v4:
11-14885820-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14885820T>C , CM000673.2:g.14885820T>C | GRCh38 |
| NC_000011.9:g.14907366T>C , CM000673.1:g.14907366T>C | GRCh37 |
| NC_000011.8:g.14863942T>C | NCBI36 |
| NG_007936.1:g.11386A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334636.10:c.323A>G MANE Select | ENSP00000334592.5:p.Asp108Gly | |
| ENST00000334636.9:c.323A>G | ENSP00000334592.5:p.Asp108Gly | |
| ENST00000525015.1:c.22A>G | ||
| ENST00000526276.5:n.227A>G | ||
| ENST00000526489.5:n.198A>G | ||
| ENST00000529043.1:n.303A>G | ||
| ENST00000530609.5:c.33A>G | ENSP00000466060.1:p.Arg11= | |
| ENST00000532378.5:c.33A>G | ENSP00000435484.1:p.Arg11= | |
| ENST00000532641.1:n.158A>G | ||
| ENST00000532805.1:c.33A>G | ENSP00000465097.1:p.Arg11= | |
| ENST00000534686.5:c.33A>G | ENSP00000432087.2:p.Arg11= | |
| NM_024514.4:c.323A>G | NP_078790.2:p.Asp108Gly | |
| XM_005252788.1:c.179A>G | XP_005252845.1:p.Asp60Gly | |
| XM_005252789.2:c.161A>G | XP_005252846.1:p.Asp54Gly | |
| XM_005252791.3:c.-23A>G | XP_005252848.1:n.-23A>G | |
| XM_006718142.2:c.278A>G | XP_006718205.1:p.Asp93Gly | |
| XM_011519894.1:c.-23A>G | XP_011518196.1:n.-23A>G | |
| XM_011519895.1:c.-23A>G | XP_011518197.1:n.-23A>G | |
| XM_011519896.1:c.-23A>G | XP_011518198.1:n.-23A>G | |
| XM_011519897.1:c.-23A>G | XP_011518199.1:n.-23A>G | |
| XM_011519898.1:c.-23A>G | XP_011518200.1:n.-23A>G | |
| XR_242777.2:n.376A>G | ||
| XM_005252788.2:c.179A>G | XP_005252845.1:p.Asp60Gly | |
| XM_005252789.3:c.161A>G | XP_005252846.1:p.Asp54Gly | |
| XM_011519895.2:c.-23A>G | XP_011518197.1:n.-23A>G | |
| XM_011519898.3:c.-23A>G | XP_011518200.1:n.-23A>G | |
| XM_017017190.2:c.158A>G | XP_016872679.1:p.Asp53Gly | |
| XM_017017191.2:c.-23A>G | XP_016872680.1:n.-23A>G | |
| XM_017017192.2:c.-23A>G | XP_016872681.1:n.-23A>G | |
| XM_017017193.2:c.-23A>G | XP_016872682.1:n.-23A>G | |
| XM_017017194.2:c.-23A>G | XP_016872683.1:n.-23A>G | |
| XM_024448345.1:c.158A>G | XP_024304113.1:p.Asp53Gly | |
| XM_024448346.1:c.-23A>G | XP_024304114.1:n.-23A>G | |
| XM_024448347.1:c.-23A>G | XP_024304115.1:n.-23A>G | |
| XM_024448348.1:c.-23A>G | XP_024304116.1:n.-23A>G | |
| XR_002957123.1:n.339A>G | ||
| XR_002957124.1:n.605A>G | ||
| XR_242777.3:n.376A>G | ||
| NM_001377214.1:c.-23A>G | NP_001364143.1:n.-23A>G | |
| NM_001377215.1:c.-23A>G | NP_001364144.1:n.-23A>G | |
| NM_001377216.1:c.-23A>G | NP_001364145.1:n.-23A>G | |
| NM_001377217.1:c.161A>G | NP_001364146.1:p.Asp54Gly | |
| NM_001377227.1:c.-23A>G | NP_001364156.1:n.-23A>G | |
| NM_024514.5:c.323A>G MANE Select | NP_078790.2:p.Asp108Gly | |
| NM_001400558.1:c.-23A>G | NP_001387487.1:n.-23A>G | |
| NM_001400559.1:c.-23A>G | NP_001387488.1:n.-23A>G | |
| NM_001400560.1:c.-23A>G | NP_001387489.1:n.-23A>G | |
| NM_001400561.1:c.-23A>G | NP_001387490.1:n.-23A>G | |
| NM_001400562.1:c.33A>G | NP_001387491.1:p.Arg11= | |
| NM_001400563.1:c.33A>G | NP_001387492.1:p.Arg11= | |
| NM_001400564.1:c.33A>G | NP_001387493.1:p.Arg11= | |
| NM_001400565.1:c.33A>G | NP_001387494.1:p.Arg11= | |
| NM_001400566.1:c.-23A>G | NP_001387495.1:n.-23A>G | |
| NM_001400567.1:c.179A>G | NP_001387496.1:p.Asp60Gly | |
| NM_001400568.1:c.278A>G | NP_001387497.1:p.Asp93Gly | |
| NR_174512.1:n.1059A>G | ||
| NR_174513.1:n.908A>G | ||
| NR_174514.1:n.1059A>G | ||
| NR_174515.1:n.1059A>G | ||
| NR_174516.1:n.870A>G | ||
| NR_174517.1:n.406A>G | ||
| NR_174518.1:n.870A>G | ||
| NR_174519.1:n.617A>G | ||
| NR_174520.1:n.817A>G | ||
| NR_174521.1:n.908A>G | ||
| NR_174522.1:n.406A>G | ||
| NR_174523.1:n.817A>G |