Linked Data
ClinVar Variation Id:
947
ClinVar RCV Id:
RCV000000997
dbSNP Id:
rs72555373
PubMed:
PMID:10737981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997308A>T , CM000665.2:g.32997308A>T | GRCh38 |
| NC_000003.11:g.33038800A>T , CM000665.1:g.33038800A>T | GRCh37 |
| NC_000003.10:g.33013804A>T | NCBI36 |
| NG_009005.1:g.104895T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1771T>A MANE Select | ENSP00000306920.4:p.Tyr591Asn | |
| ENST00000307363.9:c.1771T>A | ENSP00000306920.4:p.Tyr591Asn | |
| ENST00000307377.12:c.1378T>A | ENSP00000305920.8:p.Tyr460Asn | |
| ENST00000399402.7:c.1681T>A | ENSP00000382333.2:p.Tyr561Asn | |
| NM_000404.2:c.1771T>A | NP_000395.2:p.Tyr591Asn | |
| NM_000404.3:c.1771T>A | NP_000395.2:p.Tyr591Asn | |
| NM_001079811.1:c.1681T>A | NP_001073279.1:p.Tyr561Asn | |
| NM_001079811.2:c.1681T>A | NP_001073279.1:p.Tyr561Asn | |
| NM_001135602.1:c.1378T>A | NP_001129074.1:p.Tyr460Asn | |
| NM_001135602.2:c.1378T>A | NP_001129074.1:p.Tyr460Asn | |
| NM_001317040.1:c.1915T>A | NP_001303969.1:p.Tyr639Asn | |
| NM_000404.4:c.1771T>A MANE Select | NP_000395.3:p.Tyr591Asn | |
| NM_001079811.3:c.1681T>A | NP_001073279.2:p.Tyr561Asn | |
| NM_001135602.3:c.1378T>A | NP_001129074.2:p.Tyr460Asn | |
| NM_001317040.2:c.1915T>A | NP_001303969.2:p.Tyr639Asn | |
| NM_001393580.1:c.1734+16748T>A | NP_001380509.1:n.1734+16748T>A |