Linked Data
ClinVar Variation Id:
1773531
ClinVar RCV Id:
RCV002397105
dbSNP Id:
rs1485672832
gnomAD v3:
21-34370625-C-T
gnomAD v4:
21-34370625-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370625C>T , CM000683.2:g.34370625C>T | GRCh38 |
| NC_000021.8:g.35742924C>T , CM000683.1:g.35742924C>T | GRCh37 |
| NC_000021.7:g.34664794C>T | NCBI36 |
| NG_008804.1:g.11602C>T , LRG_291:g.11602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.147C>T MANE Select | ENSP00000290310.2:p.Val49= | |
| ENST00000290310.3:c.147C>T | ENSP00000290310.2:p.Val49= | |
| NM_172201.1:c.147C>T , LRG_291t1:c.147C>T | NP_751951.1:p.Val49= | |
| XR_937683.1:n.696G>A | ||
| XR_937684.1:n.696G>A | ||
| XR_001755012.2:n.817G>A | ||
| XR_001755013.2:n.696G>A | ||
| XR_937683.2:n.696G>A | ||
| NM_172201.2:c.147C>T MANE Select | NP_751951.1:p.Val49= |