Linked Data
ClinVar Variation Id:
68878
ClinVar RCV Id:
RCV000170899
dbSNP Id:
rs147941846
COSMIC:
COSM108103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768448C>T , CM000663.2:g.115768448C>T | GRCh38 |
| NC_000001.10:g.116311069C>T , CM000663.1:g.116311069C>T | GRCh37 |
| NC_000001.9:g.116112592C>T | NCBI36 |
| NG_008802.1:g.5358G>A , LRG_404:g.5358G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.-183G>A | ENSP00000518226.1:n.-183G>A | |
| ENST00000261448.6:c.94G>A MANE Select | ENSP00000261448.5:p.Asp32Asn | |
| ENST00000261448.5:c.94G>A | ENSP00000261448.5:p.Asp32Asn | |
| NM_001232.3:c.94G>A , LRG_404t1:c.94G>A | NP_001223.2:p.Asp32Asn | |
| NM_001232.4:c.94G>A MANE Select | NP_001223.2:p.Asp32Asn |