Linked Data
ClinVar Variation Id:
286968
dbSNP Id:
rs146617227
ExAC:
4:122766731 T / C
gnomAD v2:
4-122766731-T-C
gnomAD v3:
4-121845576-T-C
gnomAD v4:
4-121845576-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121845576T>C , CM000666.2:g.121845576T>C | GRCh38 |
| NC_000004.11:g.122766731T>C , CM000666.1:g.122766731T>C | GRCh37 |
| NC_000004.10:g.122986181T>C | NCBI36 |
| NG_009111.1:g.29912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.1158A>G MANE Select | ENSP00000264499.4:p.Thr386= | |
| ENST00000264499.8:c.1158A>G | ENSP00000264499.4:p.Thr386= | |
| ENST00000506636.1:c.1158A>G | ENSP00000423626.1:p.Thr386= | |
| NM_018190.3:c.1158A>G | NP_060660.2:p.Thr386= | |
| NM_176824.2:c.1158A>G | NP_789794.1:p.Thr386= | |
| XM_005263106.2:c.1161A>G | XP_005263163.1:p.Thr387= | |
| XM_011532079.1:c.1206A>G | XP_011530381.1:p.Thr402= | |
| XM_011532080.1:c.1203A>G | XP_011530382.1:p.Thr401= | |
| XM_011532081.1:c.1206A>G | XP_011530383.1:p.Thr402= | |
| XM_005263106.4:c.1161A>G | XP_005263163.1:p.Thr387= | |
| XM_011532079.3:c.1206A>G | XP_011530381.1:p.Thr402= | |
| XM_011532080.3:c.1203A>G | XP_011530382.1:p.Thr401= | |
| XM_011532081.3:c.1206A>G | XP_011530383.1:p.Thr402= | |
| XM_017008357.2:c.1158A>G | XP_016863846.1:p.Thr386= | |
| XM_017008358.2:c.1161A>G | XP_016863847.1:p.Thr387= | |
| NM_176824.3:c.1158A>G MANE Select | NP_789794.1:p.Thr386= | |
| NM_018190.4:c.1158A>G | NP_060660.2:p.Thr386= |