Linked Data
dbSNP Id:
rs767693167
ExAC:
7:87150186 T / C
gnomAD v2:
7-87150186-T-C
gnomAD v4:
7-87520870-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87520870T>C , CM000669.2:g.87520870T>C | GRCh38 |
| NC_000007.13:g.87150186T>C , CM000669.1:g.87150186T>C | GRCh37 |
| NC_000007.12:g.86988122T>C | NCBI36 |
| NG_011513.1:g.197379A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2692A>G | ENSP00000265724.3:p.Thr898Ala | |
| ENST00000622132.5:c.2692A>G MANE Select | ENSP00000478255.1:p.Thr898Ala | |
| ENST00000265724.7:c.2692A>G | ENSP00000265724.3:p.Thr898Ala | |
| ENST00000483831.1:n.250A>G | ||
| ENST00000488737.6:n.334A>G | ||
| ENST00000496821.5:n.320A>G | ||
| ENST00000543898.5:c.2500A>G | ENSP00000444095.1:p.Thr834Ala | |
| ENST00000622132.4:c.2692A>G | ENSP00000478255.1:p.Thr898Ala | |
| NM_000927.4:c.2692A>G | NP_000918.2:p.Thr898Ala | |
| NM_001348944.1:c.2692A>G | NP_001335873.1:p.Thr898Ala | |
| NM_001348945.1:c.2902A>G | NP_001335874.1:p.Thr968Ala | |
| NM_001348946.1:c.2692A>G | NP_001335875.1:p.Thr898Ala | |
| NM_001348946.2:c.2692A>G MANE Select | NP_001335875.1:p.Thr898Ala | |
| NM_000927.5:c.2692A>G | NP_000918.2:p.Thr898Ala | |
| NM_001348944.2:c.2692A>G | NP_001335873.1:p.Thr898Ala | |
| NM_001348945.2:c.2902A>G | NP_001335874.1:p.Thr968Ala |