Linked Data
dbSNP Id:
rs142831165
ExAC:
3:186336342 C / T
gnomAD v2:
3-186336342-C-T
gnomAD v3:
3-186618553-C-T
gnomAD v4:
3-186618553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186618553C>T , CM000665.2:g.186618553C>T | GRCh38 |
| NC_000003.11:g.186336342C>T , CM000665.1:g.186336342C>T | GRCh37 |
| NC_000003.10:g.187819036C>T | NCBI36 |
| NG_011436.1:g.10493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.591C>T MANE Select | ENSP00000393887.2:p.Thr197= | |
| ENST00000273784.5:c.594C>T | ENSP00000273784.5:p.Thr198= | |
| ENST00000411641.6:c.591C>T | ENSP00000393887.2:p.Thr197= | |
| NM_001622.2:c.591C>T | NP_001613.2:p.Thr197= | |
| NM_001354571.1:c.594C>T | NP_001341500.1:p.Thr198= | |
| NM_001354572.1:c.588C>T | NP_001341501.1:p.Thr196= | |
| NM_001354573.1:c.591C>T | NP_001341502.1:p.Thr197= | |
| NM_001622.3:c.591C>T | NP_001613.2:p.Thr197= | |
| NM_001622.4:c.591C>T MANE Select | NP_001613.2:p.Thr197= | |
| NM_001354571.2:c.594C>T | NP_001341500.1:p.Thr198= | |
| NM_001354572.2:c.588C>T | NP_001341501.1:p.Thr196= | |
| NM_001354573.2:c.591C>T | NP_001341502.1:p.Thr197= |