Linked Data
ClinVar Variation Id:
299263
ClinVar RCV Id:
RCV000402122
dbSNP Id:
rs546291238
gnomAD v4:
10-13300062-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13300062C>G , CM000672.2:g.13300062C>G | GRCh38 |
| NC_000010.10:g.13342062C>G , CM000672.1:g.13342062C>G | GRCh37 |
| NC_000010.9:g.13382068C>G | NCBI36 |
| NG_012862.1:g.5069G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.-20G>C MANE Select | ENSP00000263038.4:n.-20G>C | |
| ENST00000263038.8:c.-20G>C | ENSP00000263038.4:n.-20G>C | |
| ENST00000396920.7:c.23-1821G>C | ENSP00000380126.3:n.23-1821G>C | |
| ENST00000463730.1:n.36G>C | ||
| NM_006214.3:c.-20G>C | NP_006205.1:n.-20G>C | |
| XM_005252469.2:c.26G>C | XP_005252526.1:p.Gly9Ala | |
| NM_001323082.1:c.-20G>C | NP_001310011.1:n.-20G>C | |
| NM_001323083.1:c.-20G>C | NP_001310012.1:n.-20G>C | |
| NM_006214.4:c.-20G>C MANE Select | NP_006205.1:n.-20G>C | |
| NM_001323082.2:c.-20G>C | NP_001310011.1:n.-20G>C | |
| NM_001323083.2:c.-20G>C | NP_001310012.1:n.-20G>C |