Linked Data
ClinVar Variation Id:
718287
ClinVar RCV Id:
RCV000891211
dbSNP Id:
rs766201575
ExAC:
17:1960236 C / T
gnomAD v2:
17-1960236-C-T
gnomAD v3:
17-2056942-C-T
gnomAD v4:
17-2056942-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2056942C>T , CM000679.2:g.2056942C>T | GRCh38 |
| NC_000017.10:g.1960236C>T , CM000679.1:g.1960236C>T | GRCh37 |
| NC_000017.9:g.1906986C>T | NCBI36 |
| NG_027689.1:g.6844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619757.5:c.252C>T MANE Select | ENSP00000477858.1:p.Thr84= | |
| ENST00000322941.3:c.309C>T | ENSP00000314080.3:p.Thr103= | |
| ENST00000399849.4:c.252C>T | ENSP00000382742.2:p.Thr84= | |
| ENST00000571990.1:c.252C>T | ENSP00000460268.1:p.Thr84= | |
| ENST00000576444.1:c.252C>T | ENSP00000467045.1:p.Thr84= | |
| ENST00000619757.4:c.252C>T | ENSP00000477858.1:p.Thr84= | |
| NM_001098202.1:c.309C>T | NP_001091672.1:p.Thr103= | |
| NM_006497.3:c.252C>T | NP_006488.2:p.Thr84= | |
| NM_006497.4:c.252C>T MANE Select | NP_006488.2:p.Thr84= |