Linked Data
ClinVar Variation Id:
723358
ClinVar RCV Id:
RCV000897107
dbSNP Id:
rs766565660
gnomAD v2:
18-13884765-G-A
gnomAD v3:
18-13884766-G-A
gnomAD v4:
18-13884766-G-A
COSMIC:
COSM986774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884766G>A , CM000680.2:g.13884766G>A | GRCh38 |
| NC_000018.9:g.13884765G>A , CM000680.1:g.13884765G>A | GRCh37 |
| NC_000018.8:g.13874765G>A | NCBI36 |
| NG_011819.1:g.35771C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.753C>T MANE Select | ENSP00000333821.2:p.Cys251= | |
| ENST00000327606.3:c.753C>T | ENSP00000333821.2:p.Cys251= | |
| NM_000529.2:c.753C>T MANE Select | NP_000520.1:p.Cys251= | |
| NM_001291911.1:c.753C>T | NP_001278840.1:p.Cys251= | |
| XM_017025781.1:c.753C>T | XP_016881270.1:p.Cys251= |