Linked Data
ClinVar Variation Id:
3025824
ClinVar RCV Id:
RCV003885212
dbSNP Id:
rs755152652
ExAC:
1:64089224 C / T
gnomAD v2:
1-64089224-C-T
gnomAD v3:
1-63623553-C-T
gnomAD v4:
1-63623553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63623553C>T , CM000663.2:g.63623553C>T | GRCh38 |
| NC_000001.10:g.64089224C>T , CM000663.1:g.64089224C>T | GRCh37 |
| NC_000001.9:g.63861812C>T | NCBI36 |
| NG_016966.1:g.35278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.247-5872C>T MANE Select | ENSP00000360125.3:n.247-5872C>T | |
| ENST00000650546.1:c.247-5872C>T | ENSP00000497812.1:n.247-5872C>T | |
| ENST00000371083.4:c.93C>T | ENSP00000360124.4:p.His31= | |
| ENST00000371084.7:c.247-5872C>T | ENSP00000360125.3:n.247-5872C>T | |
| ENST00000540265.5:c.-345-5872C>T | ENSP00000443449.1:n.-345-5872C>T | |
| NM_001172818.1:c.93C>T | NP_001166289.1:p.His31= | |
| NM_001172819.1:c.-345-5872C>T | NP_001166290.1:n.-345-5872C>T | |
| NM_002633.2:c.247-5872C>T | NP_002624.2:n.247-5872C>T | |
| NM_002633.3:c.247-5872C>T MANE Select | NP_002624.2:n.247-5872C>T | |
| NM_001172819.2:c.-345-5872C>T | NP_001166290.1:n.-345-5872C>T |