Linked Data
ClinVar Variation Id:
1089463
ClinVar RCV Id:
RCV001408297
dbSNP Id:
rs958584242
gnomAD v2:
21-34787189-C-T
gnomAD v3:
21-33414882-C-T
gnomAD v4:
21-33414882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33414882C>T , CM000683.2:g.33414882C>T | GRCh38 |
| NC_000021.8:g.34787189C>T , CM000683.1:g.34787189C>T | GRCh37 |
| NC_000021.7:g.33709059C>T | NCBI36 |
| NG_007570.2:g.34891C>T , LRG_67:g.34891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290219.11:c.74-6C>T MANE Select | ENSP00000290219.5:n.74-6C>T | |
| ENST00000290219.10:c.74-6C>T | ENSP00000290219.5:n.74-6C>T | |
| ENST00000381995.5:c.131-6C>T | ENSP00000371425.1:n.131-6C>T | |
| ENST00000405436.5:c.-164-6C>T | ENSP00000385044.1:n.-164-6C>T | |
| ENST00000439213.5:c.*49-6C>T | ENSP00000407541.1:n.*49-6C>T | |
| ENST00000545369.2:c.74-6598C>T | ENSP00000442735.2:n.74-6598C>T | |
| NM_005534.3:c.74-6C>T , LRG_67t1:c.74-6C>T | NP_005525.2:n.74-6C>T | |
| XM_005260969.2:c.131-6C>T | XP_005261026.1:n.131-6C>T | |
| XM_011529553.1:c.149-6C>T | XP_011527855.1:n.149-6C>T | |
| XM_011529554.1:c.80-6C>T | XP_011527856.1:n.80-6C>T | |
| NM_001329128.1:c.131-6C>T | NP_001316057.1:n.131-6C>T | |
| XM_011529554.2:c.80-6C>T | XP_011527856.1:n.80-6C>T | |
| NM_001329128.2:c.131-6C>T | NP_001316057.1:n.131-6C>T | |
| NM_005534.4:c.74-6C>T MANE Select | NP_005525.2:n.74-6C>T |