Linked Data
ClinVar Variation Id:
2929215
ClinVar RCV Id:
RCV003781941
dbSNP Id:
rs1312731527
gnomAD v2:
3-81698161-T-A
gnomAD v4:
3-81649010-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81649010T>A , CM000665.2:g.81649010T>A | GRCh38 |
| NC_000003.11:g.81698161T>A , CM000665.1:g.81698161T>A | GRCh37 |
| NC_000003.10:g.81780851T>A | NCBI36 |
| NG_011810.1:g.117791A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.556-19A>T MANE Select | ENSP00000410833.2:n.556-19A>T | |
| ENST00000429644.6:c.556-19A>T | ENSP00000410833.2:n.556-19A>T | |
| ENST00000486920.1:n.552-19A>T | ||
| ENST00000489715.1:c.433-19A>T | ENSP00000419638.1:n.433-19A>T | |
| ENST00000498468.1:n.84-19A>T | ||
| NM_000158.3:c.556-19A>T | NP_000149.3:n.556-19A>T | |
| NM_000158.4:c.556-19A>T MANE Select | NP_000149.4:n.556-19A>T |