Linked Data
ClinVar Variation Id:
337864
ClinVar RCV Id:
RCV000332586
dbSNP Id:
rs1042580
gnomAD v2:
20-23027621-T-C
gnomAD v3:
20-23046984-T-C
gnomAD v4:
20-23046984-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23046984T>C , CM000682.2:g.23046984T>C | GRCh38 |
| NC_000020.10:g.23027621T>C , CM000682.1:g.23027621T>C | GRCh37 |
| NC_000020.9:g.22975621T>C | NCBI36 |
| NG_012027.1:g.7681A>G , LRG_168:g.7681A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.*793A>G MANE Select | ENSP00000366307.2:n.*793A>G | |
| ENST00000377103.2:c.*793A>G | ENSP00000366307.2:n.*793A>G | |
| NM_000361.2:c.*793A>G , LRG_168t1:c.*793A>G | NP_000352.1:n.*793A>G | |
| NM_000361.3:c.*793A>G MANE Select | NP_000352.1:n.*793A>G |