Linked Data
ClinVar Variation Id:
711023
ClinVar RCV Id:
RCV000882712
dbSNP Id:
rs199932176
ExAC:
8:145154823 C / A
gnomAD v2:
8-145154823-C-A
gnomAD v3:
8-144099920-C-A
gnomAD v4:
8-144099920-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144099920C>A , CM000670.2:g.144099920C>A | GRCh38 |
| NC_000008.10:g.145154823C>A , CM000670.1:g.145154823C>A | GRCh37 |
| NC_000008.9:g.145226811C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398712.7:c.517+9G>T MANE Select | ENSP00000381698.2:n.517+9G>T | |
| ENST00000359551.6:c.517+9G>T | ENSP00000352551.6:n.517+9G>T | |
| ENST00000398712.6:c.517+9G>T | ENSP00000381698.2:n.517+9G>T | |
| ENST00000525275.5:n.61+9G>T | ||
| ENST00000530216.5:n.241+9G>T | ||
| ENST00000533948.1:n.739+9G>T | ||
| ENST00000534242.5:n.542+9G>T | ||
| NM_030974.3:c.517+9G>T | NP_112236.3:n.517+9G>T | |
| NR_038270.1:n.999+9G>T | ||
| XM_017013887.2:c.517+9G>T | XP_016869376.1:n.517+9G>T | |
| XM_017013888.2:c.517+9G>T | XP_016869377.1:n.517+9G>T | |
| NM_030974.4:c.517+9G>T MANE Select | NP_112236.3:n.517+9G>T | |
| NR_038270.2:n.537+9G>T |