Linked Data
ClinVar Variation Id:
437977
ClinVar RCV Id:
RCV000504634
dbSNP Id:
rs750620302
gnomAD v2:
16-57993889-G-A
gnomAD v4:
16-57959985-G-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57959985G>A , CM000678.2:g.57959985G>A | GRCh38 |
| NC_000016.9:g.57993889G>A , CM000678.1:g.57993889G>A | GRCh37 |
| NC_000016.8:g.56551390G>A | NCBI36 |
| NG_016351.1:g.16132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.664C>T MANE Select | ENSP00000251102.8:p.Gln222Ter | |
| ENST00000251102.12:c.664C>T | ENSP00000251102.8:p.Gln222Ter | |
| ENST00000311183.8:c.664C>T | ENSP00000311670.4:p.Gln222Ter | |
| ENST00000564448.5:c.646C>T | ENSP00000454633.1:p.Gln216Ter | |
| NM_001135639.1:c.664C>T | NP_001129111.1:p.Gln222Ter | |
| NM_001286130.1:c.646C>T | NP_001273059.1:p.Gln216Ter | |
| NM_001297.4:c.664C>T | NP_001288.3:p.Gln222Ter | |
| XM_006721134.2:c.664C>T | XP_006721197.1:p.Gln222Ter | |
| NM_001135639.2:c.664C>T | NP_001129111.1:p.Gln222Ter | |
| NM_001286130.2:c.646C>T | NP_001273059.1:p.Gln216Ter | |
| NM_001297.5:c.664C>T MANE Select | NP_001288.3:p.Gln222Ter |