Linked Data
ClinVar Variation Id:
1330821
ClinVar RCV Id:
RCV001811889
dbSNP Id:
rs281864840
ExAC:
16:223191 C / T
gnomAD v2:
16-223191-C-T
gnomAD v3:
16-173192-C-T
gnomAD v4:
16-173192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173192C>T , CM000678.2:g.173192C>T | GRCh38 |
| NC_000016.9:g.223191C>T , CM000678.1:g.223191C>T | GRCh37 |
| NC_000016.8:g.163191C>T | NCBI36 |
| NG_000006.1:g.34055C>T | |
| NG_059186.1:g.1542C>T | |
| NG_059271.1:g.5346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.163C>T MANE Select | ENSP00000251595.6:p.Gln55Ter | |
| ENST00000251595.10:c.163C>T | ENSP00000251595.6:p.Gln55Ter | |
| ENST00000397806.1:c.67C>T | ENSP00000380908.1:p.Gln23Ter | |
| ENST00000482565.1:n.299C>T | ||
| ENST00000484216.1:n.132C>T | ||
| NM_000517.4:c.163C>T | NP_000508.1:p.Gln55Ter | |
| NM_000517.6:c.163C>T MANE Select | NP_000508.1:p.Gln55Ter |