Linked Data
ClinVar Variation Id:
92447
dbSNP Id:
rs398123159
ExAC:
1:241667430 A / T
gnomAD v2:
1-241667430-A-T
gnomAD v4:
1-241504130-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504130A>T , CM000663.2:g.241504130A>T | GRCh38 |
| NC_000001.10:g.241667430A>T , CM000663.1:g.241667430A>T | GRCh37 |
| NC_000001.9:g.239734053A>T | NCBI36 |
| NG_012338.1:g.20625T>A , LRG_504:g.20625T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1523T>A | ||
| ENST00000682162.1:c.1049T>A | ENSP00000508203.1:n.1049T>A | |
| ENST00000682567.1:n.1097T>A | ||
| ENST00000683521.1:c.1020T>A | ENSP00000506864.1:p.Asn340Lys | |
| ENST00000684161.1:n.2235T>A | ||
| ENST00000684483.1:c.*416T>A | ENSP00000507894.1:n.*416T>A | |
| ENST00000366560.4:c.1020T>A MANE Select | ENSP00000355518.4:p.Asn340Lys | |
| ENST00000366560.3:c.1020T>A | ENSP00000355518.3:p.Asn340Lys | |
| NM_000143.3:c.1020T>A , LRG_504t1:c.1020T>A | NP_000134.2:p.Asn340Lys | |
| XM_011544132.1:c.792T>A | XP_011542434.1:p.Asn264Lys | |
| XM_011544132.2:c.792T>A | XP_011542434.1:p.Asn264Lys | |
| NM_000143.4:c.1020T>A MANE Select | NP_000134.2:p.Asn340Lys |