Linked Data
ClinVar Variation Id:
2983695
ClinVar RCV Id:
RCV003840790
dbSNP Id:
rs773857745
COSMIC:
COSM3365362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52402673A>T , CM000665.2:g.52402673A>T | GRCh38 |
| NC_000003.11:g.52436689A>T , CM000665.1:g.52436689A>T | GRCh37 |
| NC_000003.10:g.52411729A>T | NCBI36 |
| NG_031859.1:g.12321T>A , LRG_529:g.12321T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1985T>A MANE Select | ENSP00000417132.1:p.Ile662Asn | |
| ENST00000296288.9:c.1931T>A | ENSP00000296288.5:p.Ile644Asn | |
| ENST00000460680.5:c.1985T>A | ENSP00000417132.1:p.Ile662Asn | |
| ENST00000466093.1:n.658T>A | ||
| ENST00000469613.5:c.184T>A | ||
| ENST00000478368.1:c.557T>A | ENSP00000420647.1:p.Ile186Asn | |
| NM_004656.3:c.1985T>A | NP_004647.1:p.Ile662Asn | |
| XM_011534149.1:c.2054T>A | XP_011532451.1:p.Ile685Asn | |
| XM_011534150.1:c.2009T>A | XP_011532452.1:p.Ile670Asn | |
| XM_011534151.1:c.2000T>A | XP_011532453.1:p.Ile667Asn | |
| XM_011534152.1:c.1940T>A | XP_011532454.1:p.Ile647Asn | |
| XM_011534149.3:c.2054T>A | XP_011532451.1:p.Ile685Asn | |
| XM_011534150.3:c.2009T>A | XP_011532452.1:p.Ile670Asn | |
| XM_011534151.3:c.2000T>A | XP_011532453.1:p.Ile667Asn | |
| XM_011534152.2:c.1940T>A | XP_011532454.1:p.Ile647Asn | |
| XM_017007303.2:c.1931T>A | XP_016862792.1:p.Ile644Asn | |
| NM_004656.4:c.1985T>A MANE Select | NP_004647.1:p.Ile662Asn |