Linked Data
ClinVar Variation Id:
190750
dbSNP Id:
rs752330104
ExAC:
1:116311129 A / T
gnomAD v2:
1-116311129-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768508A>T , CM000663.2:g.115768508A>T | GRCh38 |
| NC_000001.10:g.116311129A>T , CM000663.1:g.116311129A>T | GRCh37 |
| NC_000001.9:g.116112652A>T | NCBI36 |
| NG_008802.1:g.5298T>A , LRG_404:g.5298T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-223-20T>A | ENSP00000518226.1:n.-223-20T>A | |
| ENST00000261448.6:c.34T>A MANE Select | ENSP00000261448.5:p.Tyr12Asn | |
| ENST00000261448.5:c.34T>A | ENSP00000261448.5:p.Tyr12Asn | |
| NM_001232.3:c.34T>A , LRG_404t1:c.34T>A | NP_001223.2:p.Tyr12Asn | |
| NM_001232.4:c.34T>A MANE Select | NP_001223.2:p.Tyr12Asn |