Linked Data
ClinVar Variation Id:
945438
ClinVar RCV Id:
RCV001216082
dbSNP Id:
rs1660245455
COSMIC:
COSM4764914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241517286C>T , CM000663.2:g.241517286C>T | GRCh38 |
| NC_000001.10:g.241680586C>T , CM000663.1:g.241680586C>T | GRCh37 |
| NC_000001.9:g.239747209C>T | NCBI36 |
| NG_012338.1:g.7469G>A , LRG_504:g.7469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.666G>A | ||
| ENST00000682162.1:c.192G>A | ENSP00000508203.1:n.192G>A | |
| ENST00000682567.1:n.240G>A | ||
| ENST00000683521.1:c.163G>A | ENSP00000506864.1:p.Asp55Asn | |
| ENST00000684483.1:c.163G>A | ENSP00000507894.1:p.Asp55Asn | |
| ENST00000366560.4:c.163G>A MANE Select | ENSP00000355518.4:p.Asp55Asn | |
| ENST00000366560.3:c.163G>A | ENSP00000355518.3:p.Asp55Asn | |
| ENST00000493477.1:n.276G>A | ||
| NM_000143.3:c.163G>A , LRG_504t1:c.163G>A | NP_000134.2:p.Asp55Asn | |
| XM_011544132.1:c.-66G>A | XP_011542434.1:n.-66G>A | |
| XM_011544132.2:c.-66G>A | XP_011542434.1:n.-66G>A | |
| NM_000143.4:c.163G>A MANE Select | NP_000134.2:p.Asp55Asn |