Linked Data
ClinVar Variation Id:
1649107
ClinVar RCV Id:
RCV002146219
dbSNP Id:
rs1401434819
gnomAD v4:
11-47333175-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333175C>A , CM000673.2:g.47333175C>A | GRCh38 |
| NC_000011.9:g.47354726C>A , CM000673.1:g.47354726C>A | GRCh37 |
| NC_000011.8:g.47311302C>A | NCBI36 |
| NG_007667.1:g.24528G>T , LRG_386:g.24528G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3330+19G>T MANE Select | ENSP00000442795.1:n.3330+19G>T | |
| ENST00000256993.8:c.3330+19G>T | ENSP00000256993.5:n.3330+19G>T | |
| ENST00000399249.6:c.3330+19G>T | ENSP00000382193.2:n.3330+19G>T | |
| ENST00000545968.5:c.3330+19G>T | ENSP00000442795.1:n.3330+19G>T | |
| NM_000256.3:c.3330+19G>T , LRG_386t1:c.3330+19G>T MANE Select | NP_000247.2:n.3330+19G>T | |
| XM_011520117.1:c.3312+19G>T | XP_011518419.1:n.3312+19G>T | |
| XM_011520118.1:c.3249+19G>T | XP_011518420.1:n.3249+19G>T |