Linked Data
ClinVar Variation Id:
15652
ClinVar RCV Id:
RCV001831576
dbSNP Id:
rs41412046
gnomAD v3:
16-173600-A-T
gnomAD v4:
16-173600-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173600A>T , CM000678.2:g.173600A>T | GRCh38 |
| NC_000016.9:g.223599A>T , CM000678.1:g.223599A>T | GRCh37 |
| NC_000016.8:g.163599A>T | NCBI36 |
| NG_000006.1:g.34463A>T | |
| NG_059186.1:g.1950A>T | |
| NG_059271.1:g.5754A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.429A>T MANE Select | ENSP00000251595.6:p.Ter143Tyr | |
| ENST00000251595.10:c.429A>T | ENSP00000251595.6:p.Ter143Tyr | |
| ENST00000397806.1:c.333A>T | ENSP00000380908.1:p.Ter111Tyr | |
| ENST00000482565.1:n.565A>T | ||
| NM_000517.4:c.429A>T | NP_000508.1:p.Ter143Tyr | |
| NM_000517.6:c.429A>T MANE Select | NP_000508.1:p.Ter143Tyr |