Linked Data
ClinVar Variation Id:
1142771
ClinVar RCV Id:
RCV001480686
dbSNP Id:
rs377175400
ExAC:
3:81698146 C / T
gnomAD v2:
3-81698146-C-T
gnomAD v4:
3-81648995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648995C>T , CM000665.2:g.81648995C>T | GRCh38 |
| NC_000003.11:g.81698146C>T , CM000665.1:g.81698146C>T | GRCh37 |
| NC_000003.10:g.81780836C>T | NCBI36 |
| NG_011810.1:g.117806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.556-4G>A MANE Select | ENSP00000410833.2:n.556-4G>A | |
| ENST00000429644.6:c.556-4G>A | ENSP00000410833.2:n.556-4G>A | |
| ENST00000486920.1:n.552-4G>A | ||
| ENST00000489715.1:c.433-4G>A | ENSP00000419638.1:n.433-4G>A | |
| ENST00000498468.1:n.84-4G>A | ||
| NM_000158.3:c.556-4G>A | NP_000149.3:n.556-4G>A | |
| NM_000158.4:c.556-4G>A MANE Select | NP_000149.4:n.556-4G>A |