Linked Data
ClinVar Variation Id:
130194
dbSNP Id:
rs34989098
ExAC:
18:67673697 C / T
gnomAD v2:
18-67673697-C-T
gnomAD v3:
18-70006461-C-T
gnomAD v4:
18-70006461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70006461C>T , CM000680.2:g.70006461C>T | GRCh38 |
| NC_000018.9:g.67673697C>T , CM000680.1:g.67673697C>T | GRCh37 |
| NC_000018.8:g.65824677C>T | NCBI36 |
| NG_033104.1:g.204266G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255674.11:c.6445G>A | ENSP00000255674.7:p.Ala2149Thr | |
| ENST00000578780.2:c.952G>A | ENSP00000462675.2:p.Ala318Thr | |
| ENST00000579986.6:c.2532G>A | ENSP00000491518.1:n.2532G>A | |
| ENST00000638799.1:n.2263G>A | ||
| ENST00000639128.1:n.4019G>A | ||
| ENST00000639487.1:c.1819G>A | ||
| ENST00000640525.1:n.466G>A | ||
| ENST00000640769.2:c.6445G>A MANE Select | ENSP00000491507.1:p.Ala2149Thr | |
| ENST00000677824.1:c.3844G>A | ENSP00000504646.1:p.Ala1282Thr | |
| ENST00000679113.1:c.3909G>A | ENSP00000504487.1:n.3909G>A | |
| ENST00000255674.10:c.6445G>A | ENSP00000255674.6:p.Ala2149Thr | |
| ENST00000578780.1:c.396G>A | ||
| ENST00000581161.5:c.*4759G>A | ENSP00000462926.1:n.*4759G>A | |
| ENST00000583043.5:c.5695G>A | ENSP00000462733.1:n.5695G>A | |
| NM_173630.3:c.6445G>A | NP_775901.3:p.Ala2149Thr | |
| XM_005266679.1:c.3709G>A | XP_005266736.1:p.Ala1237Thr | |
| XM_006722434.2:c.6448G>A | XP_006722497.1:p.Ala2150Thr | |
| XM_011525902.1:c.6208G>A | XP_011524204.1:p.Ala2070Thr | |
| XM_011525903.1:c.6019G>A | XP_011524205.1:p.Ala2007Thr | |
| XM_011525906.1:c.4948G>A | XP_011524208.1:p.Ala1650Thr | |
| NM_001318520.1:c.3709G>A | NP_001305449.1:p.Ala1237Thr | |
| XM_006722434.3:c.6448G>A | XP_006722497.1:p.Ala2150Thr | |
| XM_011525902.2:c.6208G>A | XP_011524204.1:p.Ala2070Thr | |
| XM_011525903.2:c.6019G>A | XP_011524205.1:p.Ala2007Thr | |
| XM_011525906.2:c.4948G>A | XP_011524208.1:p.Ala1650Thr | |
| XM_017025693.1:c.6205G>A | XP_016881182.1:p.Ala2069Thr | |
| XM_017025694.1:c.5806G>A | XP_016881183.1:p.Ala1936Thr | |
| XM_017025695.1:c.5383G>A | XP_016881184.1:p.Ala1795Thr | |
| XM_017025696.1:c.4339G>A | XP_016881185.1:p.Ala1447Thr | |
| XM_024451139.1:c.5668G>A | XP_024306907.1:p.Ala1890Thr | |
| XM_024451140.1:c.5668G>A | XP_024306908.1:p.Ala1890Thr | |
| NM_001318520.2:c.3709G>A | NP_001305449.1:p.Ala1237Thr | |
| NM_173630.4:c.6445G>A MANE Select | NP_775901.3:p.Ala2149Thr |