Linked Data
ClinVar Variation Id:
1307778
dbSNP Id:
rs777642089
ExAC:
3:38766737 T / C
gnomAD v2:
3-38766737-T-C
gnomAD v3:
3-38725246-T-C
gnomAD v4:
3-38725246-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725246T>C , CM000665.2:g.38725246T>C | GRCh38 |
| NC_000003.11:g.38766737T>C , CM000665.1:g.38766737T>C | GRCh37 |
| NC_000003.10:g.38741741T>C | NCBI36 |
| NG_031891.2:g.73765A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3156A>G MANE Select | ENSP00000390600.2:p.Thr1052= | |
| ENST00000643924.1:c.3153A>G | ENSP00000495595.1:p.Thr1051= | |
| ENST00000655275.1:c.3180A>G | ENSP00000499510.1:p.Thr1060= | |
| ENST00000449082.2:c.3156A>G | ENSP00000390600.2:p.Thr1052= | |
| NM_001293306.2:c.3153A>G | NP_001280235.2:p.Thr1051= | |
| NM_001293307.2:c.2862A>G | NP_001280236.2:p.Thr954= | |
| NM_006514.3:c.3156A>G | NP_006505.3:p.Thr1052= | |
| XM_005265371.2:c.3165A>G | XP_005265428.1:p.Thr1055= | |
| XM_011533993.1:c.3162A>G | XP_011532295.1:p.Thr1054= | |
| XM_011533994.1:c.2871A>G | XP_011532296.1:p.Thr957= | |
| XM_005265371.3:c.3165A>G | XP_005265428.1:p.Thr1055= | |
| XM_011533993.2:c.3162A>G | XP_011532295.1:p.Thr1054= | |
| XM_011533994.2:c.2871A>G | XP_011532296.1:p.Thr957= | |
| NM_006514.4:c.3156A>G MANE Select | NP_006505.4:p.Thr1052= |