Linked Data
ClinVar Variation Id:
1696422
ClinVar RCV Id:
RCV002266559
dbSNP Id:
rs2143940438
MutSpliceDB:
CA395657630
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31110204G>T , CM000678.2:g.31110204G>T | GRCh38 |
| NC_000016.9:g.31121525G>T , CM000678.1:g.31121525G>T | GRCh37 |
| NC_000016.8:g.31029026G>T | NCBI36 |
| NG_033011.1:g.6911G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219794.11:c.424-1G>T MANE Select | ENSP00000219794.6:n.424-1G>T | |
| ENST00000219794.10:c.424-1G>T | ENSP00000219794.6:n.424-1G>T | |
| ENST00000287507.7:c.424-1G>T | ENSP00000287507.3:n.424-1G>T | |
| ENST00000394950.7:c.424-1G>T | ENSP00000378404.3:n.424-1G>T | |
| ENST00000394951.5:c.424-1G>T | ENSP00000378405.1:n.424-1G>T | |
| ENST00000484226.2:c.397-1G>T | ENSP00000457226.1:n.397-1G>T | |
| ENST00000566568.1:n.925-1G>T | ||
| ENST00000567530.5:c.424-1G>T | ENSP00000456479.1:n.424-1G>T | |
| NM_001122957.2:c.424-1G>T | NP_001116429.1:n.424-1G>T | |
| NM_001271926.1:c.424-1G>T | NP_001258855.1:n.424-1G>T | |
| NM_005881.3:c.424-1G>T | NP_005872.2:n.424-1G>T | |
| XM_017022859.1:c.424-1G>T | XP_016878348.1:n.424-1G>T | |
| NM_005881.4:c.424-1G>T MANE Select | NP_005872.2:n.424-1G>T | |
| NM_001122957.3:c.424-1G>T | NP_001116429.1:n.424-1G>T | |
| NM_001271926.2:c.424-1G>T | NP_001258855.1:n.424-1G>T | |
| NM_001122957.4:c.424-1G>T | NP_001116429.1:n.424-1G>T | |
| NM_001271926.3:c.424-1G>T | NP_001258855.1:n.424-1G>T |