Linked Data
dbSNP Id:
rs779519065
ExAC:
6:3225827 T / A
gnomAD v2:
6-3225827-T-A
gnomAD v3:
6-3225593-T-A
gnomAD v4:
6-3225593-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225593T>A , CM000668.2:g.3225593T>A | GRCh38 |
| NC_000006.11:g.3225827T>A , CM000668.1:g.3225827T>A | GRCh37 |
| NC_000006.10:g.3170826T>A | NCBI36 |
| NG_016715.1:g.7142A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.496A>T MANE Select | ENSP00000259818.6:p.Thr166Ser | |
| ENST00000680070.1:n.1426A>T | ||
| ENST00000681707.1:n.1323A>T | ||
| ENST00000681757.1:n.801A>T | ||
| ENST00000259818.7:c.496A>T | ENSP00000259818.6:p.Thr166Ser | |
| ENST00000473006.1:n.613A>T | ||
| NM_178012.4:c.496A>T | NP_821080.1:p.Thr166Ser | |
| XM_011514571.1:c.280A>T | XP_011512873.1:p.Thr94Ser | |
| NM_178012.5:c.496A>T MANE Select | NP_821080.1:p.Thr166Ser |