Linked Data
ClinVar Variation Id:
473988
dbSNP Id:
rs200366112
ExAC:
1:201027561 A / G
gnomAD v2:
1-201027561-A-G
gnomAD v3:
1-201058433-A-G
gnomAD v4:
1-201058433-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201058433A>G , CM000663.2:g.201058433A>G | GRCh38 |
| NC_000001.10:g.201027561A>G , CM000663.1:g.201027561A>G | GRCh37 |
| NC_000001.9:g.199294184A>G | NCBI36 |
| NG_009816.1:g.59134T>C | |
| NG_009816.2:g.59134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.3584T>C MANE Select | ENSP00000355192.3:p.Ile1195Thr | |
| ENST00000679417.1:c.*2747T>C | ENSP00000506706.1:n.*2747T>C | |
| ENST00000680051.1:n.710T>C | ||
| ENST00000680059.1:c.*1102T>C | ENSP00000504944.1:n.*1102T>C | |
| ENST00000681078.1:c.3584T>C | ENSP00000506645.1:p.Ile1195Thr | |
| ENST00000681190.1:c.3584T>C | ENSP00000506428.1:p.Ile1195Thr | |
| ENST00000681874.1:c.3524T>C | ENSP00000505162.1:p.Ile1175Thr | |
| ENST00000362061.3:c.3584T>C | ENSP00000355192.3:p.Ile1195Thr | |
| ENST00000367338.7:c.3584T>C | ENSP00000356307.3:p.Ile1195Thr | |
| NM_000069.2:c.3584T>C | NP_000060.2:p.Ile1195Thr | |
| XM_005245478.2:c.3584T>C | XP_005245535.1:p.Ile1195Thr | |
| XM_005245478.3:c.3584T>C | XP_005245535.1:p.Ile1195Thr | |
| NM_000069.3:c.3584T>C MANE Select | NP_000060.2:p.Ile1195Thr |