Linked Data
ClinVar Variation Id:
1462468
ClinVar RCV Id:
RCV001954266
dbSNP Id:
rs143346209
ExAC:
3:8787210 A / T
gnomAD v2:
3-8787210-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745524A>T , CM000665.2:g.8745524A>T | GRCh38 |
| NC_000003.11:g.8787210A>T , CM000665.1:g.8787210A>T | GRCh37 |
| NC_000003.10:g.8762210A>T | NCBI36 |
| NG_008797.2:g.16715A>T , LRG_329:g.16715A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.115-2A>T MANE Select | ENSP00000341940.2:n.115-2A>T | |
| ENST00000343849.2:c.115-2A>T | ENSP00000341940.2:n.115-2A>T | |
| ENST00000397368.2:c.115-2A>T | ENSP00000380525.2:n.115-2A>T | |
| ENST00000472766.1:n.155+11534A>T | ||
| NM_001234.4:c.115-2A>T | NP_001225.1:n.115-2A>T | |
| NM_033337.2:c.115-2A>T , LRG_329t1:c.115-2A>T | NP_203123.1:n.115-2A>T | |
| NM_001234.5:c.115-2A>T | NP_001225.1:n.115-2A>T | |
| NM_033337.3:c.115-2A>T MANE Select | NP_203123.1:n.115-2A>T |