Linked Data
ClinVar Variation Id:
635370
ClinVar RCV Id:
RCV000786793
dbSNP Id:
rs1570203209
MutSpliceDB:
CA340560868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.50970498G>T , CM000663.2:g.50970498G>T | GRCh38 |
| NC_000001.10:g.51436170G>T , CM000663.1:g.51436170G>T | GRCh37 |
| NC_000001.9:g.51208758G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371761.4:c.129+1G>T MANE Select | ENSP00000360826.3:n.129+1G>T | |
| ENST00000396148.2:c.129+1G>T | ENSP00000379452.1:n.129+1G>T | |
| ENST00000262662.5:c.129+1G>T | ENSP00000262662.1:n.129+1G>T | |
| ENST00000371761.3:c.129+1G>T | ENSP00000360826.3:n.129+1G>T | |
| ENST00000396148.1:c.129+1G>T | ENSP00000379452.1:n.129+1G>T | |
| NM_001262.2:c.129+1G>T | NP_001253.1:n.129+1G>T | |
| NM_078626.2:c.129+1G>T | NP_523240.1:n.129+1G>T | |
| NM_078626.3:c.129+1G>T MANE Select | NP_523240.1:n.129+1G>T | |
| NM_001262.3:c.129+1G>T | NP_001253.1:n.129+1G>T |