Linked Data
ClinVar Variation Id:
1682489
ClinVar RCV Id:
RCV002237084
dbSNP Id:
rs1233172989
gnomAD v2:
17-41055945-T-C
gnomAD v3:
17-42903928-T-C
gnomAD v4:
17-42903928-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42903928T>C , CM000679.2:g.42903928T>C | GRCh38 |
| NC_000017.10:g.41055945T>C , CM000679.1:g.41055945T>C | GRCh37 |
| NC_000017.9:g.38309471T>C | NCBI36 |
| NG_011808.1:g.8131T>C , LRG_147:g.8131T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.231-3T>C MANE Select | ENSP00000253801.1:n.231-3T>C | |
| ENST00000253801.6:c.231-3T>C | ENSP00000253801.1:n.231-3T>C | |
| ENST00000585489.1:c.231-3T>C | ENSP00000466202.1:n.231-3T>C | |
| ENST00000588481.1:n.296-3T>C | ||
| ENST00000592383.5:c.231-3T>C | ENSP00000465958.1:n.231-3T>C | |
| NM_000151.3:c.231-3T>C | NP_000142.2:n.231-3T>C | |
| NM_001270397.1:c.231-3T>C | NP_001257326.1:n.231-3T>C | |
| NM_000151.4:c.231-3T>C MANE Select | NP_000142.2:n.231-3T>C | |
| NM_001270397.2:c.231-3T>C | NP_001257326.1:n.231-3T>C |