Linked Data
ClinVar Variation Id:
2939
dbSNP Id:
rs28941785
ExAC:
1:70881670 C / T
gnomAD v2:
1-70881670-C-T
gnomAD v3:
1-70415987-C-T
gnomAD v4:
1-70415987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70415987C>T , CM000663.2:g.70415987C>T | GRCh38 |
| NC_000001.10:g.70881670C>T , CM000663.1:g.70881670C>T | GRCh37 |
| NC_000001.9:g.70654258C>T | NCBI36 |
| NG_008041.1:g.9716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370938.8:c.200C>T MANE Select | ENSP00000359976.3:p.Thr67Ile | |
| ENST00000346806.2:c.200C>T | ENSP00000311554.2:p.Thr67Ile | |
| ENST00000370938.7:c.200C>T | ENSP00000359976.3:p.Thr67Ile | |
| ENST00000411986.6:c.200C>T | ENSP00000413407.2:p.Thr67Ile | |
| ENST00000464926.1:n.344C>T | ||
| NM_001190463.1:c.200C>T | NP_001177392.1:p.Thr67Ile | |
| NM_001902.5:c.200C>T | NP_001893.2:p.Thr67Ile | |
| NM_153742.4:c.200C>T | NP_714964.2:p.Thr67Ile | |
| XM_005270509.2:c.-128C>T | XP_005270566.1:n.-128C>T | |
| XM_005270509.3:c.-128C>T | XP_005270566.1:n.-128C>T | |
| NM_001902.6:c.200C>T MANE Select | NP_001893.2:p.Thr67Ile | |
| NM_001190463.2:c.200C>T | NP_001177392.1:p.Thr67Ile | |
| NM_153742.5:c.200C>T | NP_714964.2:p.Thr67Ile |