Linked Data
ClinVar Variation Id:
1602825
ClinVar RCV Id:
RCV002130082
dbSNP Id:
rs1326656051
gnomAD v4:
6-99609300-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99609300C>T , CM000668.2:g.99609300C>T | GRCh38 |
| NC_000006.11:g.100057176C>T , CM000668.1:g.100057176C>T | GRCh37 |
| NC_000006.10:g.100163897C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.390C>T MANE Select | ENSP00000358217.5:p.Asp130= | |
| ENST00000369214.2:c.*52C>T | ENSP00000358216.2:n.*52C>T | |
| ENST00000369215.4:c.390C>T | ENSP00000358217.4:p.Asp130= | |
| NM_021620.3:c.390C>T | NP_067633.2:p.Asp130= | |
| NM_021620.4:c.390C>T MANE Select | NP_067633.2:p.Asp130= |