Linked Data
ClinVar Variation Id:
65840
ClinVar RCV Id:
RCV000056080
dbSNP Id:
rs587778783
gnomAD v4:
2-218814433-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814433T>A , CM000664.2:g.218814433T>A | GRCh38 |
| NC_000002.11:g.219679156T>A , CM000664.1:g.219679156T>A | GRCh37 |
| NC_000002.10:g.219387400T>A | NCBI36 |
| NG_007959.1:g.37685T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1238T>A MANE Select | ENSP00000258415.4:p.Val413Asp | |
| ENST00000258415.8:c.1238T>A | ENSP00000258415.4:p.Val413Asp | |
| ENST00000494263.5:n.1864T>A | ||
| NM_000784.3:c.1238T>A | NP_000775.1:p.Val413Asp | |
| XM_017003488.2:c.818T>A | XP_016858977.1:p.Val273Asp | |
| NM_000784.4:c.1238T>A MANE Select | NP_000775.1:p.Val413Asp |