Linked Data
ClinVar Variation Id:
68846
ClinVar RCV Id:
RCV000059809
dbSNP Id:
rs318240756
gnomAD v2:
1-196965190-T-A
gnomAD v3:
1-196996060-T-A
gnomAD v4:
1-196996060-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996060T>A , CM000663.2:g.196996060T>A | GRCh38 |
| NC_000001.10:g.196965190T>A , CM000663.1:g.196965190T>A | GRCh37 |
| NC_000001.9:g.195231813T>A | NCBI36 |
| NG_016365.1:g.23524T>A , LRG_227:g.23524T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.574T>A | ENSP00000514393.1:p.Tyr192Asn | |
| ENST00000699467.1:n.898T>A | ||
| ENST00000699468.1:c.-24-54T>A | ENSP00000514394.1:n.-24-54T>A | |
| ENST00000256785.5:c.829T>A MANE Select | ENSP00000256785.4:p.Tyr277Asn | |
| ENST00000256785.4:c.829T>A | ENSP00000256785.4:p.Tyr277Asn | |
| NM_030787.3:c.829T>A , LRG_227t1:c.829T>A | NP_110414.1:p.Tyr277Asn | |
| XM_011510020.1:c.838T>A | XP_011508322.1:p.Tyr280Asn | |
| XM_011510020.2:c.838T>A | XP_011508322.1:p.Tyr280Asn | |
| NM_030787.4:c.829T>A MANE Select | NP_110414.1:p.Tyr277Asn |