Linked Data
ClinVar Variation Id:
1326867
ClinVar RCV Id:
RCV001787252
dbSNP Id:
rs2131095903
MutSpliceDB:
CA375872940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3780231T>C , CM000672.2:g.3780231T>C | GRCh38 |
| NC_000010.10:g.3822423T>C , CM000672.1:g.3822423T>C | GRCh37 |
| NC_000010.9:g.3812423T>C | NCBI36 |
| NG_012277.1:g.10051A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497571.6:c.677-2A>G MANE Select | ENSP00000419923.1:n.677-2A>G | |
| ENST00000173785.4:n.258-2A>G | ||
| ENST00000492125.1:n.266A>G | ||
| ENST00000497571.5:c.677-2A>G | ENSP00000419923.1:n.677-2A>G | |
| ENST00000542957.1:c.677-641A>G | ENSP00000445301.1:n.677-641A>G | |
| NM_001160124.1:c.551-2A>G | NP_001153596.1:n.551-2A>G | |
| NM_001160125.1:c.677-641A>G | NP_001153597.1:n.677-641A>G | |
| NM_001300.5:c.677-2A>G | NP_001291.3:n.677-2A>G | |
| NR_027653.1:n.790-2A>G | ||
| NM_001300.6:c.677-2A>G MANE Select | NP_001291.3:n.677-2A>G | |
| NM_001160124.2:c.551-2A>G | NP_001153596.1:n.551-2A>G | |
| NR_027653.2:n.718-2A>G | ||
| NM_001160125.2:c.677-641A>G | NP_001153597.1:n.677-641A>G |