Linked Data
ClinVar Variation Id:
1679434
ClinVar RCV Id:
RCV002227313
dbSNP Id:
rs281864878
gnomAD v4:
16-173312-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173312G>T , CM000678.2:g.173312G>T | GRCh38 |
| NC_000016.9:g.223311G>T , CM000678.1:g.223311G>T | GRCh37 |
| NC_000016.8:g.163311G>T | NCBI36 |
| NG_000006.1:g.34175G>T | |
| NG_059186.1:g.1662G>T | |
| NG_059271.1:g.5466G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.283G>T MANE Select | ENSP00000251595.6:p.Asp95Tyr | |
| ENST00000251595.10:c.283G>T | ENSP00000251595.6:p.Asp95Tyr | |
| ENST00000397806.1:c.187G>T | ENSP00000380908.1:p.Asp63Tyr | |
| ENST00000482565.1:n.419G>T | ||
| ENST00000484216.1:n.252G>T | ||
| NM_000517.4:c.283G>T | NP_000508.1:p.Asp95Tyr | |
| NM_000517.6:c.283G>T MANE Select | NP_000508.1:p.Asp95Tyr |