Linked Data
ClinVar Variation Id:
899121
ClinVar RCV Id:
RCV001143410
dbSNP Id:
rs1216840252
gnomAD v3:
20-63895334-T-A
gnomAD v4:
20-63895334-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63895334T>A , CM000682.2:g.63895334T>A | GRCh38 |
| NC_000020.10:g.62526687T>A , CM000682.1:g.62526687T>A | GRCh37 |
| NC_000020.9:g.61997131T>A | NCBI36 |
| NG_029805.1:g.5233T>A | |
| NG_029805.2:g.5233T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360864.9:c.-12+11T>A MANE Select | ENSP00000354111.4:n.-12+11T>A | |
| ENST00000360864.8:c.-12+11T>A | ENSP00000354111.4:n.-12+11T>A | |
| ENST00000470551.1:c.-12+11T>A | ENSP00000434744.1:n.-12+11T>A | |
| NM_025219.2:c.-12+11T>A | NP_079495.1:n.-12+11T>A | |
| NM_025219.3:c.-12+11T>A MANE Select | NP_079495.1:n.-12+11T>A |