Linked Data
ClinVar Variation Id:
99390
ClinVar RCV Id:
RCV000085744
RCV000178424
RCV000348932
RCV000293913
RCV000309306
RCV000391356
RCV001002812
RCV000721173
RCV001097975
RCV001723669
RCV001197336
RCV001262623
dbSNP Id:
rs1801466
ExAC:
1:94476467 T / A
gnomAD v2:
1-94476467-T-A
gnomAD v3:
1-94010911-T-A
gnomAD v4:
1-94010911-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94010911T>A , CM000663.2:g.94010911T>A | GRCh38 |
| NC_000001.10:g.94476467T>A , CM000663.1:g.94476467T>A | GRCh37 |
| NC_000001.9:g.94249055T>A | NCBI36 |
| NG_009073.1:g.115239A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5603A>T MANE Select | ENSP00000359245.3:p.Asn1868Ile | |
| ENST00000370225.3:c.5603A>T | ENSP00000359245.3:p.Asn1868Ile | |
| ENST00000465352.1:n.19A>T | ||
| ENST00000536513.5:c.1979A>T | ENSP00000439707.2:p.Asn660Ile | |
| NM_000350.2:c.5603A>T | NP_000341.2:p.Asn1868Ile | |
| NM_000350.3:c.5603A>T MANE Select | NP_000341.2:p.Asn1868Ile |