Linked Data
ClinVar Variation Id:
15644
ClinVar RCV Id:
RCV000016930
dbSNP Id:
rs33987053
ExAC:
16:223519 G / T
gnomAD v2:
16-223519-G-T
gnomAD v3:
16-173520-G-T
gnomAD v4:
16-173520-G-T
PubMed:
PMID:3597771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173520G>T , CM000678.2:g.173520G>T | GRCh38 |
| NC_000016.9:g.223519G>T , CM000678.1:g.223519G>T | GRCh37 |
| NC_000016.8:g.163519G>T | NCBI36 |
| NG_000006.1:g.34383G>T | |
| NG_059186.1:g.1870G>T | |
| NG_059271.1:g.5674G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.349G>T MANE Select | ENSP00000251595.6:p.Glu117Ter | |
| ENST00000251595.10:c.349G>T | ENSP00000251595.6:p.Glu117Ter | |
| ENST00000397806.1:c.253G>T | ENSP00000380908.1:p.Glu85Ter | |
| ENST00000482565.1:n.485G>T | ||
| NM_000517.4:c.349G>T | NP_000508.1:p.Glu117Ter | |
| NM_000517.6:c.349G>T MANE Select | NP_000508.1:p.Glu117Ter |