Linked Data
ClinVar Variation Id:
635382
ClinVar RCV Id:
RCV000786809
dbSNP Id:
rs1576395533
MutSpliceDB:
CA352574504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47638723A>G , CM000665.2:g.47638723A>G | GRCh38 |
| NC_000003.11:g.47680213A>G , CM000665.1:g.47680213A>G | GRCh37 |
| NC_000003.10:g.47655217A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254480.10:c.2376+2T>C MANE Select | ENSP00000254480.5:n.2376+2T>C | |
| ENST00000254480.9:c.2376+2T>C | ENSP00000254480.5:n.2376+2T>C | |
| ENST00000425518.5:n.2266+2T>C | ||
| NM_003074.3:c.2376+2T>C | NP_003065.3:n.2376+2T>C | |
| XM_011534034.1:c.2049+2T>C | XP_011532336.1:n.2049+2T>C | |
| XR_001740239.1:n.2629+2T>C | ||
| NM_003074.4:c.2376+2T>C MANE Select | NP_003065.3:n.2376+2T>C |