Linked Data
dbSNP Id:
rs771078303
ExAC:
3:186336368 C / T
gnomAD v2:
3-186336368-C-T
gnomAD v4:
3-186618579-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186618579C>T , CM000665.2:g.186618579C>T | GRCh38 |
| NC_000003.11:g.186336368C>T , CM000665.1:g.186336368C>T | GRCh37 |
| NC_000003.10:g.187819062C>T | NCBI36 |
| NG_011436.1:g.10519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.617C>T MANE Select | ENSP00000393887.2:p.Thr206Ile | |
| ENST00000273784.5:c.620C>T | ENSP00000273784.5:p.Thr207Ile | |
| ENST00000411641.6:c.617C>T | ENSP00000393887.2:p.Thr206Ile | |
| NM_001622.2:c.617C>T | NP_001613.2:p.Thr206Ile | |
| NM_001354571.1:c.620C>T | NP_001341500.1:p.Thr207Ile | |
| NM_001354572.1:c.614C>T | NP_001341501.1:p.Thr205Ile | |
| NM_001354573.1:c.617C>T | NP_001341502.1:p.Thr206Ile | |
| NM_001622.3:c.617C>T | NP_001613.2:p.Thr206Ile | |
| NM_001622.4:c.617C>T MANE Select | NP_001613.2:p.Thr206Ile | |
| NM_001354571.2:c.620C>T | NP_001341500.1:p.Thr207Ile | |
| NM_001354572.2:c.614C>T | NP_001341501.1:p.Thr205Ile | |
| NM_001354573.2:c.617C>T | NP_001341502.1:p.Thr206Ile |