Linked Data
ClinVar Variation Id:
1556
dbSNP Id:
rs118204081
gnomAD v4:
8-19956052-C-A
PubMed:
PMID:10735636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956052C>A , CM000670.2:g.19956052C>A | GRCh38 |
| NC_000008.10:g.19813563C>A , CM000670.1:g.19813563C>A | GRCh37 |
| NC_000008.9:g.19857843C>A | NCBI36 |
| NG_008855.1:g.21982C>A | |
| NG_008855.2:g.59336C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.987C>A MANE Select | ENSP00000497642.1:p.Tyr329Ter | |
| ENST00000650478.1:c.48C>A | ENSP00000497560.1:p.Tyr16Ter | |
| ENST00000311322.8:c.987C>A | ENSP00000309757.6:p.Tyr329Ter | |
| NM_000237.2:c.987C>A | NP_000228.1:p.Tyr329Ter | |
| NM_000237.3:c.987C>A MANE Select | NP_000228.1:p.Tyr329Ter |