Linked Data
ClinVar Variation Id:
2596822
ClinVar RCV Id:
RCV004336101
dbSNP Id:
rs986919831
gnomAD v4:
2-223598351-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223598351A>T , CM000664.2:g.223598351A>T | GRCh38 |
| NC_000002.11:g.224463069A>T , CM000664.1:g.224463069A>T | GRCh37 |
| NC_000002.10:g.224171313A>T | NCBI36 |
| NG_027998.1:g.9149T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305409.3:c.932T>A MANE Select | ENSP00000304133.2:p.Ile311Asn | |
| ENST00000305409.2:c.932T>A | ENSP00000304133.2:p.Ile311Asn | |
| NM_003469.4:c.932T>A | NP_003460.2:p.Ile311Asn | |
| NM_003469.5:c.932T>A MANE Select | NP_003460.2:p.Ile311Asn |