Linked Data
dbSNP Id:
rs1481039742
gnomAD v2:
11-17633982-C-A
gnomAD v3:
11-17612435-C-A
gnomAD v4:
11-17612435-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612435C>A , CM000673.2:g.17612435C>A | GRCh38 |
| NC_000011.9:g.17633982C>A , CM000673.1:g.17633982C>A | GRCh37 |
| NC_000011.8:g.17590558C>A | NCBI36 |
| NG_033191.1:g.70063C>A | |
| NG_033191.2:g.70063C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6328+105C>A | ENSP00000382323.2:n.6328+105C>A | |
| ENST00000399397.6:c.6292+105C>A MANE Select | ENSP00000382329.2:n.6292+105C>A | |
| ENST00000342528.2:c.3346+105C>A | ENSP00000341666.2:n.3346+105C>A | |
| ENST00000399391.6:c.6328+105C>A | ENSP00000382323.2:n.6328+105C>A | |
| ENST00000399397.5:c.6292+105C>A | ENSP00000382329.2:n.6292+105C>A | |
| NM_001277269.1:c.6328+105C>A | NP_001264198.1:n.6328+105C>A | |
| NM_001292063.1:c.6292+105C>A | NP_001278992.1:n.6292+105C>A | |
| NM_001277269.2:c.6328+105C>A | NP_001264198.1:n.6328+105C>A | |
| NM_001292063.2:c.6292+105C>A MANE Select | NP_001278992.1:n.6292+105C>A |