Linked Data
ClinVar Variation Id:
132934
ClinVar RCV Id:
RCV000148983
dbSNP Id:
rs606231315
gnomAD v4:
14-23431678-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431678C>T , CM000676.2:g.23431678C>T | GRCh38 |
| NC_000014.8:g.23900887C>T , CM000676.1:g.23900887C>T | GRCh37 |
| NC_000014.7:g.22970727C>T | NCBI36 |
| NG_007884.1:g.8984G>A , LRG_384:g.8984G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.640-1G>A MANE Select | ENSP00000347507.3:n.640-1G>A | |
| ENST00000355349.3:c.640-1G>A | ENSP00000347507.3:n.640-1G>A | |
| NM_000257.3:c.640-1G>A | NP_000248.2:n.640-1G>A | |
| XR_245686.3:n.746-1G>A | ||
| XM_017021340.1:c.640-1G>A | XP_016876829.1:n.640-1G>A | |
| NM_000257.4:c.640-1G>A MANE Select | NP_000248.2:n.640-1G>A |