Linked Data
ClinVar Variation Id:
301930
ClinVar RCV Id:
RCV000371076
dbSNP Id:
rs531522695
gnomAD v3:
11-102576842-A-G
gnomAD v4:
11-102576842-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102576842A>G , CM000673.2:g.102576842A>G | GRCh38 |
| NC_000011.9:g.102447573A>G , CM000673.1:g.102447573A>G | GRCh37 |
| NC_000011.8:g.101952783A>G | NCBI36 |
| NG_012151.1:g.53491T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260228.3:c.*484T>C MANE Select | ENSP00000260228.2:n.*484T>C | |
| ENST00000260228.2:c.*484T>C | ENSP00000260228.2:n.*484T>C | |
| NM_004771.3:c.*484T>C | NP_004762.2:n.*484T>C | |
| NM_004771.4:c.*484T>C MANE Select | NP_004762.2:n.*484T>C |