Linked Data
ClinVar Variation Id:
1130
dbSNP Id:
rs2241880
ExAC:
2:234183368 A / G
gnomAD v2:
2-234183368-A-G
gnomAD v3:
2-233274722-A-G
gnomAD v4:
2-233274722-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233274722A>G , CM000664.2:g.233274722A>G | GRCh38 |
| NC_000002.11:g.234183368A>G , CM000664.1:g.234183368A>G | GRCh37 |
| NC_000002.10:g.233848107A>G | NCBI36 |
| NG_023038.1:g.28152A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392017.9:c.898A>G MANE Select | ENSP00000375872.4:p.Thr300Ala | |
| ENST00000347464.9:c.409A>G | ENSP00000318259.6:p.Thr137Ala | |
| ENST00000373525.9:c.466A>G | ENSP00000362625.5:p.Thr156Ala | |
| ENST00000392017.8:c.898A>G | ENSP00000375872.4:p.Thr300Ala | |
| ENST00000392018.1:c.949A>G | ENSP00000375873.1:p.Thr317Ala | |
| ENST00000392020.8:c.841A>G | ENSP00000375875.4:p.Thr281Ala | |
| ENST00000392021.7:c.*779A>G | ENSP00000375876.3:n.*779A>G | |
| ENST00000419681.5:c.409A>G | ENSP00000398773.1:p.Thr137Ala | |
| ENST00000444735.5:c.517A>G | ENSP00000409215.1:p.Thr173Ala | |
| ENST00000474148.5:n.1693A>G | ||
| ENST00000479942.5:n.1044A>G | ||
| ENST00000492298.5:n.419A>G | ||
| ENST00000498620.5:n.405A>G | ||
| NM_001190266.1:c.646A>G | NP_001177195.1:p.Thr216Ala | |
| NM_001190267.1:c.550A>G | NP_001177196.1:p.Thr184Ala | |
| NM_017974.3:c.841A>G | NP_060444.3:p.Thr281Ala | |
| NM_030803.6:c.898A>G | NP_110430.5:p.Thr300Ala | |
| NM_198890.2:c.409A>G | NP_942593.2:p.Thr137Ala | |
| XM_005246082.1:c.949A>G | XP_005246139.1:p.Thr317Ala | |
| XM_005246084.1:c.517A>G | XP_005246141.1:p.Thr173Ala | |
| XM_005246086.1:c.466A>G | XP_005246143.1:p.Thr156Ala | |
| XM_006712608.1:c.697A>G | XP_006712671.1:p.Thr233Ala | |
| XR_241242.1:n.1143A>G | ||
| NM_001363742.1:c.949A>G | NP_001350671.1:p.Thr317Ala | |
| XM_005246084.2:c.517A>G | XP_005246141.1:p.Thr173Ala | |
| XM_005246086.2:c.466A>G | XP_005246143.1:p.Thr156Ala | |
| XM_006712608.3:c.697A>G | XP_006712671.1:p.Thr233Ala | |
| XR_001738801.2:n.1079A>G | ||
| XR_241242.3:n.1130A>G | ||
| NM_030803.7:c.898A>G MANE Select | NP_110430.5:p.Thr300Ala | |
| NM_001190266.2:c.646A>G | NP_001177195.1:p.Thr216Ala | |
| NM_001190267.2:c.550A>G | NP_001177196.1:p.Thr184Ala | |
| NM_001363742.2:c.949A>G | NP_001350671.1:p.Thr317Ala | |
| NM_017974.4:c.841A>G | NP_060444.3:p.Thr281Ala | |
| NM_198890.3:c.409A>G | NP_942593.2:p.Thr137Ala |