Linked Data
ClinVar Variation Id:
1331068
ClinVar RCV Id:
RCV001812604
dbSNP Id:
rs2142018022
gnomAD v4:
16-173251-G-T
MyVariant Identifiers:
chr16:g.223250G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173251G>T , CM000678.2:g.173251G>T | GRCh38 |
| NC_000016.9:g.223250G>T , CM000678.1:g.223250G>T | GRCh37 |
| NC_000016.8:g.163250G>T | NCBI36 |
| NG_000006.1:g.34114G>T | |
| NG_059186.1:g.1601G>T | |
| NG_059271.1:g.5405G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.222G>T MANE Select | ENSP00000251595.6:p.Val74= | |
| ENST00000251595.10:c.222G>T | ENSP00000251595.6:p.Val74= | |
| ENST00000397806.1:c.126G>T | ENSP00000380908.1:p.Val42= | |
| ENST00000482565.1:n.358G>T | ||
| ENST00000484216.1:n.191G>T | ||
| NM_000517.4:c.222G>T | NP_000508.1:p.Val74= | |
| NM_000517.6:c.222G>T MANE Select | NP_000508.1:p.Val74= |