Linked Data
ClinVar Variation Id:
347694
ClinVar RCV Id:
RCV000393308
dbSNP Id:
rs181282602
gnomAD v2:
4-149001043-G-A
gnomAD v3:
4-148079892-G-A
gnomAD v4:
4-148079892-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148079892G>A , CM000666.2:g.148079892G>A | GRCh38 |
| NC_000004.11:g.149001043G>A , CM000666.1:g.149001043G>A | GRCh37 |
| NC_000004.10:g.149220493G>A | NCBI36 |
| NG_013350.1:g.367630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.*1452C>T MANE Select | ENSP00000350815.3:n.*1452C>T | |
| ENST00000344721.8:c.*1452C>T | ENSP00000341390.4:n.*1452C>T | |
| ENST00000358102.7:c.*1452C>T | ENSP00000350815.3:n.*1452C>T | |
| ENST00000625323.2:c.*1452C>T | ENSP00000486719.1:n.*1452C>T | |
| NM_000901.4:c.*1452C>T | NP_000892.2:n.*1452C>T | |
| NM_001166104.1:c.*1452C>T | NP_001159576.1:n.*1452C>T | |
| XM_011531975.1:c.*1452C>T | XP_011530277.1:n.*1452C>T | |
| XM_011531976.1:c.*1452C>T | XP_011530278.1:n.*1452C>T | |
| XM_011531977.1:c.*1452C>T | XP_011530279.1:n.*1452C>T | |
| NM_001354819.1:c.*1452C>T | NP_001341748.1:n.*1452C>T | |
| NR_148974.1:n.4274C>T | ||
| NM_000901.5:c.*1452C>T MANE Select | NP_000892.2:n.*1452C>T | |
| NM_001166104.2:c.*1452C>T | NP_001159576.1:n.*1452C>T | |
| NR_148974.2:n.4168C>T |