Linked Data
ClinVar Variation Id:
132936
ClinVar RCV Id:
RCV000148985
dbSNP Id:
rs606231314
gnomAD v4:
14-23431733-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431733A>T , CM000676.2:g.23431733A>T | GRCh38 |
| NC_000014.8:g.23900942A>T , CM000676.1:g.23900942A>T | GRCh37 |
| NC_000014.7:g.22970782A>T | NCBI36 |
| NG_007884.1:g.8929T>A , LRG_384:g.8929T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.639+28T>A MANE Select | ENSP00000347507.3:n.639+28T>A | |
| ENST00000355349.3:c.639+28T>A | ENSP00000347507.3:n.639+28T>A | |
| NM_000257.3:c.639+28T>A | NP_000248.2:n.639+28T>A | |
| XR_245686.3:n.745+28T>A | ||
| XM_017021340.1:c.639+28T>A | XP_016876829.1:n.639+28T>A | |
| NM_000257.4:c.639+28T>A MANE Select | NP_000248.2:n.639+28T>A |