Linked Data
ClinVar Variation Id:
10582
ClinVar RCV Id:
RCV000011328
dbSNP Id:
rs137852236
PubMed:
PMID:2743975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139548467A>T , CM000685.2:g.139548467A>T | GRCh38 |
| NC_000023.10:g.138630626A>T , CM000685.1:g.138630626A>T | GRCh37 |
| NC_000023.9:g.138458292A>T | NCBI36 |
| NG_007994.1:g.22732A>T , LRG_556:g.22732A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.496A>T MANE Select | ENSP00000218099.2:p.Asn166Tyr | |
| ENST00000643157.1:n.1163A>T | ||
| ENST00000218099.6:c.496A>T | ENSP00000218099.2:p.Asn166Tyr | |
| ENST00000394090.2:c.382A>T | ENSP00000377650.2:p.Asn128Tyr | |
| NM_000133.3:c.496A>T , LRG_556t1:c.496A>T | NP_000124.1:p.Asn166Tyr | |
| NM_001313913.1:c.382A>T | NP_001300842.1:p.Asn128Tyr | |
| XM_005262397.3:c.392-2595A>T | XP_005262454.1:n.392-2595A>T | |
| XM_005262397.4:c.392-2595A>T | XP_005262454.1:n.392-2595A>T | |
| NM_000133.4:c.496A>T MANE Select | NP_000124.1:p.Asn166Tyr | |
| NM_001313913.2:c.382A>T | NP_001300842.1:p.Asn128Tyr |