Linked Data
ClinVar Variation Id:
1474851
ClinVar RCV Id:
RCV001973686
dbSNP Id:
rs2118574727
gnomAD v4:
9-113275657-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113275657C>T , CM000671.2:g.113275657C>T | GRCh38 |
| NC_000009.11:g.116037937C>T , CM000671.1:g.116037937C>T | GRCh37 |
| NC_000009.10:g.115077758C>T | NCBI36 |
| NG_034225.1:g.5024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374199.9:c.-87C>T | ENSP00000363315.4:n.-87C>T | |
| ENST00000374198.4:c.-87C>T | ENSP00000363313.3:n.-87C>T | |
| ENST00000374199.8:c.-87C>T | ENSP00000363315.3:n.-87C>T | |
| NM_001244926.1:c.-87C>T | NP_001231855.1:n.-87C>T | |
| NM_004697.4:c.-87C>T | NP_004688.2:n.-87C>T | |
| XM_011519181.1:c.-87C>T | XP_011517483.1:n.-87C>T | |
| NM_001322266.1:c.-852C>T | NP_001309195.1:n.-852C>T | |
| NM_001322267.1:c.-855C>T | NP_001309196.1:n.-855C>T | |
| NR_136265.1:n.24C>T | ||
| NR_136266.1:n.24C>T |