Linked Data
ClinVar Variation Id:
942923
ClinVar RCV Id:
RCV001213010
dbSNP Id:
rs369407958
ExAC:
3:128199929 A / G
gnomAD v2:
3-128199929-A-G
gnomAD v4:
3-128481086-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481086A>G , CM000665.2:g.128481086A>G | GRCh38 |
| NC_000003.11:g.128199929A>G , CM000665.1:g.128199929A>G | GRCh37 |
| NC_000003.10:g.129682619A>G | NCBI36 |
| NG_029334.1:g.17102T>C , LRG_295:g.17102T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1376T>C MANE Plus Clinical | ENSP00000417074.1:p.Ile459Thr | |
| ENST00000696466.1:c.1658T>C | ENSP00000512647.1:p.Ile553Thr | |
| ENST00000696672.1:c.351T>C | ENSP00000512796.1:p.His117= | |
| ENST00000341105.7:c.1376T>C MANE Select | ENSP00000345681.2:p.Ile459Thr | |
| ENST00000341105.6:c.1376T>C | ENSP00000345681.2:p.Ile459Thr | |
| ENST00000430265.6:c.1334T>C | ENSP00000400259.2:p.Ile445Thr | |
| ENST00000487848.5:c.1376T>C | ENSP00000417074.1:p.Ile459Thr | |
| ENST00000489987.1:n.493T>C | ||
| NM_001145661.1:c.1376T>C , LRG_295t1:c.1376T>C | NP_001139133.1:p.Ile459Thr | |
| NM_001145662.1:c.1334T>C | NP_001139134.1:p.Ile445Thr | |
| NM_032638.4:c.1376T>C , LRG_295t2:c.1376T>C | NP_116027.2:p.Ile459Thr | |
| NM_001145661.2:c.1376T>C MANE Plus Clinical | NP_001139133.1:p.Ile459Thr | |
| NM_032638.5:c.1376T>C MANE Select | NP_116027.2:p.Ile459Thr |