Linked Data
ClinVar Variation Id:
626816
ClinVar RCV Id:
RCV002533964
dbSNP Id:
rs759579652
gnomAD v4:
14-23422276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422276C>T , CM000676.2:g.23422276C>T | GRCh38 |
| NC_000014.8:g.23891485C>T , CM000676.1:g.23891485C>T | GRCh37 |
| NC_000014.7:g.22961325C>T | NCBI36 |
| NG_007884.1:g.18386G>A , LRG_384:g.18386G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.3149G>A MANE Select | ENSP00000347507.3:p.Arg1050Gln | |
| ENST00000355349.3:c.3149G>A | ENSP00000347507.3:p.Arg1050Gln | |
| NM_000257.3:c.3149G>A | NP_000248.2:p.Arg1050Gln | |
| XR_245686.3:n.3255G>A | ||
| XM_017021340.1:c.3149G>A | XP_016876829.1:p.Arg1050Gln | |
| NM_000257.4:c.3149G>A MANE Select | NP_000248.2:p.Arg1050Gln |