Linked Data
ClinVar Variation Id:
337862
ClinVar RCV Id:
RCV000367420
dbSNP Id:
rs3176123
gnomAD v2:
20-23027413-T-G
gnomAD v3:
20-23046776-T-G
gnomAD v4:
20-23046776-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23046776T>G , CM000682.2:g.23046776T>G | GRCh38 |
| NC_000020.10:g.23027413T>G , CM000682.1:g.23027413T>G | GRCh37 |
| NC_000020.9:g.22975413T>G | NCBI36 |
| NG_012027.1:g.7889A>C , LRG_168:g.7889A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.*1001A>C MANE Select | ENSP00000366307.2:n.*1001A>C | |
| ENST00000377103.2:c.*1001A>C | ENSP00000366307.2:n.*1001A>C | |
| NM_000361.2:c.*1001A>C , LRG_168t1:c.*1001A>C | NP_000352.1:n.*1001A>C | |
| NM_000361.3:c.*1001A>C MANE Select | NP_000352.1:n.*1001A>C |