Linked Data
ClinVar Variation Id:
406348
ClinVar RCV Id:
RCV001387501
dbSNP Id:
rs1060501076
COSMIC:
COSM6037762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468526C>A , CM000677.2:g.48468526C>A | GRCh38 |
| NC_000015.9:g.48760723C>A , CM000677.1:g.48760723C>A | GRCh37 |
| NC_000015.8:g.46548015C>A | NCBI36 |
| NG_008805.2:g.182263G>T , LRG_778:g.182263G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4468G>T | ENSP00000453958.2:p.Glu1490Ter | |
| ENST00000674301.2:c.4468G>T | ENSP00000501333.2:p.Glu1490Ter | |
| ENST00000684448.1:n.3142G>T | ||
| ENST00000316623.10:c.4468G>T MANE Select | ENSP00000325527.5:p.Glu1490Ter | |
| ENST00000316623.9:c.4468G>T | ENSP00000325527.5:p.Glu1490Ter | |
| ENST00000537463.6:c.*231G>T | ENSP00000440294.2:n.*231G>T | |
| NM_000138.4:c.4468G>T , LRG_778t1:c.4468G>T | NP_000129.3:p.Glu1490Ter | |
| NM_000138.5:c.4468G>T MANE Select | NP_000129.3:p.Glu1490Ter |