Linked Data
ClinVar Variation Id:
128353
dbSNP Id:
rs59848367
ExAC:
1:63877642 C / T
gnomAD v2:
1-63877642-C-T
gnomAD v3:
1-63411971-C-T
gnomAD v4:
1-63411971-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63411971C>T , CM000663.2:g.63411971C>T | GRCh38 |
| NC_000001.10:g.63877642C>T , CM000663.1:g.63877642C>T | GRCh37 |
| NC_000001.9:g.63650230C>T | NCBI36 |
| NG_008925.2:g.49382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263440.6:c.726C>T MANE Select | ENSP00000263440.5:p.Phe242= | |
| ENST00000603108.6:c.726C>T | ENSP00000473934.2:p.Phe242= | |
| ENST00000647818.1:c.*32C>T | ENSP00000497667.1:n.*32C>T | |
| ENST00000648964.1:c.*455C>T | ENSP00000497828.1:n.*455C>T | |
| ENST00000649570.1:c.*158C>T | ENSP00000497742.1:n.*158C>T | |
| ENST00000650494.1:c.*28C>T | ENSP00000497170.1:n.*28C>T | |
| ENST00000263440.4:c.732C>T | ENSP00000263440.4:p.Phe244= | |
| ENST00000371108.8:c.726C>T | ENSP00000360149.4:p.Phe242= | |
| ENST00000603108.5:c.732C>T | ENSP00000473934.1:p.Phe244= | |
| NM_013339.3:c.726C>T | NP_037471.2:p.Phe242= | |
| NM_013339.4:c.726C>T MANE Select | NP_037471.2:p.Phe242= |