Linked Data
ClinVar Variation Id:
1784394
ClinVar RCV Id:
RCV002417331
dbSNP Id:
rs748711806
gnomAD v2:
14-23902737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433528C>T , CM000676.2:g.23433528C>T | GRCh38 |
| NC_000014.8:g.23902737C>T , CM000676.1:g.23902737C>T | GRCh37 |
| NC_000014.7:g.22972577C>T | NCBI36 |
| NG_007884.1:g.7134G>A , LRG_384:g.7134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.201+4G>A MANE Select | ENSP00000347507.3:n.201+4G>A | |
| ENST00000355349.3:c.201+4G>A | ENSP00000347507.3:n.201+4G>A | |
| NM_000257.3:c.201+4G>A | NP_000248.2:n.201+4G>A | |
| XR_245686.3:n.307+4G>A | ||
| XM_017021340.1:c.201+4G>A | XP_016876829.1:n.201+4G>A | |
| NM_000257.4:c.201+4G>A MANE Select | NP_000248.2:n.201+4G>A |