Linked Data
ClinVar Variation Id:
404089
dbSNP Id:
rs1060500092
gnomAD v3:
3-128481302-G-T
gnomAD v4:
3-128481302-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481302G>T , CM000665.2:g.128481302G>T | GRCh38 |
| NC_000003.11:g.128200145G>T , CM000665.1:g.128200145G>T | GRCh37 |
| NC_000003.10:g.129682835G>T | NCBI36 |
| NG_029334.1:g.16886C>A , LRG_295:g.16886C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1160C>A MANE Plus Clinical | ENSP00000417074.1:p.Thr387Asn | |
| ENST00000696466.1:c.1442C>A | ENSP00000512647.1:p.Thr481Asn | |
| ENST00000696672.1:c.135C>A | ENSP00000512796.1:p.Asp45Glu | |
| ENST00000341105.7:c.1160C>A MANE Select | ENSP00000345681.2:p.Thr387Asn | |
| ENST00000341105.6:c.1160C>A | ENSP00000345681.2:p.Thr387Asn | |
| ENST00000430265.6:c.1118C>A | ENSP00000400259.2:p.Thr373Asn | |
| ENST00000487848.5:c.1160C>A | ENSP00000417074.1:p.Thr387Asn | |
| ENST00000489987.1:n.277C>A | ||
| NM_001145661.1:c.1160C>A , LRG_295t1:c.1160C>A | NP_001139133.1:p.Thr387Asn | |
| NM_001145662.1:c.1118C>A | NP_001139134.1:p.Thr373Asn | |
| NM_032638.4:c.1160C>A , LRG_295t2:c.1160C>A | NP_116027.2:p.Thr387Asn | |
| NM_001145661.2:c.1160C>A MANE Plus Clinical | NP_001139133.1:p.Thr387Asn | |
| NM_032638.5:c.1160C>A MANE Select | NP_116027.2:p.Thr387Asn |