Linked Data
ClinVar Variation Id:
437978
ClinVar RCV Id:
RCV000504793
dbSNP Id:
rs1555493707
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57959886A>T , CM000678.2:g.57959886A>T | GRCh38 |
| NC_000016.9:g.57993790A>T , CM000678.1:g.57993790A>T | GRCh37 |
| NC_000016.8:g.56551291A>T | NCBI36 |
| NG_016351.1:g.16231T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.761+2T>A MANE Select | ENSP00000251102.8:n.761+2T>A | |
| ENST00000251102.12:c.761+2T>A | ENSP00000251102.8:n.761+2T>A | |
| ENST00000311183.8:c.761+2T>A | ENSP00000311670.4:n.761+2T>A | |
| ENST00000564448.5:c.743+2T>A | ENSP00000454633.1:n.743+2T>A | |
| NM_001135639.1:c.761+2T>A | NP_001129111.1:n.761+2T>A | |
| NM_001286130.1:c.743+2T>A | NP_001273059.1:n.743+2T>A | |
| NM_001297.4:c.761+2T>A | NP_001288.3:n.761+2T>A | |
| XM_006721134.2:c.761+2T>A | XP_006721197.1:n.761+2T>A | |
| NM_001135639.2:c.761+2T>A | NP_001129111.1:n.761+2T>A | |
| NM_001286130.2:c.743+2T>A | NP_001273059.1:n.743+2T>A | |
| NM_001297.5:c.761+2T>A MANE Select | NP_001288.3:n.761+2T>A |