Linked Data
ClinVar Variation Id:
136459
ClinVar RCV Id:
RCV000123773
dbSNP Id:
rs374732925
ExAC:
20:57607352 G / A
gnomAD v2:
20-57607352-G-A
gnomAD v3:
20-59032297-G-A
gnomAD v4:
20-59032297-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59032297G>A , CM000682.2:g.59032297G>A | GRCh38 |
| NC_000020.10:g.57607352G>A , CM000682.1:g.57607352G>A | GRCh37 |
| NC_000020.9:g.57040747G>A | NCBI36 |
| NG_031871.1:g.5071C>T | |
| NG_031871.2:g.5071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243997.8:c.-46C>T MANE Select | ENSP00000243997.3:n.-46C>T | |
| ENST00000243997.7:c.-46C>T | ENSP00000243997.3:n.-46C>T | |
| ENST00000395659.1:c.-46C>T | ENSP00000379019.1:n.-46C>T | |
| NM_006886.3:c.-46C>T | NP_008817.1:n.-46C>T | |
| NR_037929.1:n.737-1868C>T | ||
| NR_037930.1:n.478-1868C>T | ||
| NM_006886.4:c.-46C>T MANE Select | NP_008817.1:n.-46C>T |