Linked Data
ClinVar Variation Id:
166382
dbSNP Id:
rs201104489
ExAC:
11:17531319 C / T
gnomAD v2:
11-17531319-C-T
gnomAD v3:
11-17509772-C-T
gnomAD v4:
11-17509772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17509772C>T , CM000673.2:g.17509772C>T | GRCh38 |
| NC_000011.9:g.17531319C>T , CM000673.1:g.17531319C>T | GRCh37 |
| NC_000011.8:g.17487895C>T | NCBI36 |
| NG_011883.1:g.39645G>A | |
| NG_011883.2:g.39645G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005226.12:c.1597G>A MANE Select | ENSP00000005226.7:p.Ala533Thr | |
| ENST00000318024.9:c.1284+7629G>A MANE Plus Clinical | ENSP00000317018.4:n.1284+7629G>A | |
| ENST00000005226.11:c.1597G>A | ENSP00000005226.7:p.Ala533Thr | |
| ENST00000318024.8:c.1284+7629G>A | ENSP00000317018.4:n.1284+7629G>A | |
| ENST00000526313.5:c.1211-7792G>A | ENSP00000432236.1:n.1211-7792G>A | |
| ENST00000527020.5:c.1227+7629G>A | ENSP00000436934.1:n.1227+7629G>A | |
| ENST00000527720.5:c.1191+7629G>A | ENSP00000432944.1:n.1191+7629G>A | |
| ENST00000529563.5:n.168+6683G>A | ||
| NM_001297764.1:c.1227+7629G>A | NP_001284693.1:n.1227+7629G>A | |
| NM_005709.3:c.1284+7629G>A | NP_005700.2:n.1284+7629G>A | |
| NM_153676.3:c.1597G>A | NP_710142.1:p.Ala533Thr | |
| NR_123738.1:n.1320-7792G>A | ||
| XM_011519831.1:c.1621G>A | XP_011518133.1:p.Ala541Thr | |
| XM_011519832.1:c.1437+2130G>A | XP_011518134.1:n.1437+2130G>A | |
| XM_011519833.1:c.1334+6469G>A | XP_011518135.1:n.1334+6469G>A | |
| XR_930841.1:n.1655+2130G>A | ||
| XR_930842.1:n.1596+2130G>A | ||
| XM_011519832.3:c.1437+2130G>A | XP_011518134.1:n.1437+2130G>A | |
| XM_017017072.1:c.1621G>A | XP_016872561.1:p.Ala541Thr | |
| XM_017017073.1:c.1564G>A | XP_016872562.1:p.Ala522Thr | |
| XM_017017074.1:c.1555-543G>A | XP_016872563.1:n.1555-543G>A | |
| XM_017017075.1:c.1597G>A | XP_016872564.1:p.Ala533Thr | |
| XR_001747717.2:n.1443+6469G>A | ||
| NM_153676.4:c.1597G>A MANE Select | NP_710142.1:p.Ala533Thr | |
| NM_001297764.2:c.1227+7629G>A | NP_001284693.1:n.1227+7629G>A | |
| NM_005709.4:c.1284+7629G>A MANE Plus Clinical | NP_005700.2:n.1284+7629G>A | |
| NR_123738.2:n.1320-7792G>A |