Linked Data
ClinVar Variation Id:
662048
ClinVar RCV Id:
RCV000819600
dbSNP Id:
rs1592738583
gnomAD v4:
12-32824070-A-T
COSMIC:
COSM468291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32824070A>T , CM000674.2:g.32824070A>T | GRCh38 |
| NC_000012.11:g.32977004A>T , CM000674.1:g.32977004A>T | GRCh37 |
| NC_000012.10:g.32868271A>T | NCBI36 |
| NG_009000.1:g.77777T>A , LRG_398:g.77777T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.161T>A | ||
| ENST00000700559.2:c.1649T>A | ENSP00000515065.2:p.Ile550Asn | |
| ENST00000700563.2:c.1649T>A | ENSP00000515066.2:p.Ile550Asn | |
| ENST00000546498.2:n.336T>A | ||
| ENST00000700555.1:c.89T>A | ENSP00000515062.1:p.Ile30Asn | |
| ENST00000700556.1:c.120T>A | ||
| ENST00000700559.1:c.864T>A | ||
| ENST00000700560.1:n.864T>A | ||
| ENST00000700561.1:n.990T>A | ||
| ENST00000700563.1:c.1603T>A | ||
| ENST00000700564.1:n.1653T>A | ||
| ENST00000070846.11:c.1781T>A | ENSP00000070846.6:p.Ile594Asn | |
| ENST00000340811.9:c.1649T>A MANE Select | ENSP00000342800.5:p.Ile550Asn | |
| ENST00000070846.10:c.1781T>A | ENSP00000070846.6:p.Ile594Asn | |
| ENST00000340811.8:c.1649T>A | ENSP00000342800.4:p.Ile550Asn | |
| ENST00000546498.1:n.336T>A | ||
| ENST00000552612.5:n.70T>A | ||
| ENST00000613243.1:c.1781T>A | ENSP00000478295.1:p.Ile594Asn | |
| NM_001005242.2:c.1649T>A | NP_001005242.2:p.Ile550Asn | |
| NM_004572.3:c.1781T>A , LRG_398t1:c.1781T>A | NP_004563.2:p.Ile594Asn | |
| NM_001005242.3:c.1649T>A MANE Select | NP_001005242.2:p.Ile550Asn | |
| NM_004572.4:c.1781T>A | NP_004563.2:p.Ile594Asn |