Linked Data
ClinVar Variation Id:
424095
ClinVar RCV Id:
RCV000485915
dbSNP Id:
rs1064796793
gnomAD v4:
8-86611587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86611587C>T , CM000670.2:g.86611587C>T | GRCh38 |
| NC_000008.10:g.87623815C>T , CM000670.1:g.87623815C>T | GRCh37 |
| NC_000008.9:g.87692931C>T | NCBI36 |
| NG_016980.1:g.137089G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1662+1G>A MANE Select | ENSP00000316605.5:n.1662+1G>A | |
| ENST00000681546.1:n.1482+1G>A | ||
| ENST00000681746.1:c.1662+1G>A | ENSP00000505959.1:n.1662+1G>A | |
| ENST00000320005.5:c.1662+1G>A | ENSP00000316605.5:n.1662+1G>A | |
| NM_019098.4:c.1662+1G>A | NP_061971.3:n.1662+1G>A | |
| XM_011517138.1:c.1248+1G>A | XP_011515440.1:n.1248+1G>A | |
| XM_011517138.2:c.1248+1G>A | XP_011515440.1:n.1248+1G>A | |
| NM_019098.5:c.1662+1G>A MANE Select | NP_061971.3:n.1662+1G>A |