Linked Data
ClinVar Variation Id:
2201103
dbSNP Id:
rs771342676
ExAC:
11:68579963 C / T
gnomAD v2:
11-68579963-C-T
gnomAD v3:
11-68812495-C-T
gnomAD v4:
11-68812495-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68812495C>T , CM000673.2:g.68812495C>T | GRCh38 |
| NC_000011.9:g.68579963C>T , CM000673.1:g.68579963C>T | GRCh37 |
| NC_000011.8:g.68336539C>T | NCBI36 |
| NG_011801.1:g.34437G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.223G>A MANE Select | ENSP00000265641.4:p.Ala75Thr | |
| ENST00000265641.9:c.223G>A | ENSP00000265641.4:p.Ala75Thr | |
| ENST00000376618.6:c.223G>A | ENSP00000365803.2:p.Ala75Thr | |
| ENST00000539743.5:c.223G>A | ENSP00000446108.1:p.Ala75Thr | |
| ENST00000540367.5:c.223G>A | ENSP00000439084.1:p.Ala75Thr | |
| ENST00000561996.1:c.223G>A | ENSP00000457663.1:p.Ala75Thr | |
| ENST00000565318.5:c.223G>A | ENSP00000457826.1:p.Ala75Thr | |
| ENST00000569129.5:c.223G>A | ENSP00000455116.1:p.Ala75Thr | |
| NM_001031847.2:c.223G>A | NP_001027017.1:p.Ala75Thr | |
| NM_001876.3:c.223G>A | NP_001867.2:p.Ala75Thr | |
| XM_005273762.1:c.319G>A | XP_005273819.1:p.Ala107Thr | |
| XM_005273763.1:c.319G>A | XP_005273820.1:p.Ala107Thr | |
| XM_005273762.3:c.319G>A | XP_005273819.1:p.Ala107Thr | |
| XM_017017220.1:c.223G>A | XP_016872709.1:p.Ala75Thr | |
| NM_001876.4:c.223G>A MANE Select | NP_001867.2:p.Ala75Thr | |
| NM_001031847.3:c.223G>A | NP_001027017.1:p.Ala75Thr |