Linked Data
ClinVar Variation Id:
523008
ClinVar RCV Id:
RCV000626208
dbSNP Id:
rs745503234
ExAC:
1:196762453 G / T
gnomAD v2:
1-196762453-G-T
gnomAD v3:
1-196793323-G-T
gnomAD v4:
1-196793323-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196793323G>T , CM000663.2:g.196793323G>T | GRCh38 |
| NC_000001.10:g.196762453G>T , CM000663.1:g.196762453G>T | GRCh37 |
| NC_000001.9:g.195029076G>T | NCBI36 |
| NG_015993.1:g.23524G>T , LRG_175:g.23524G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696032.1:c.4325G>T | ENSP00000512341.1:p.Cys1442Phe | |
| ENST00000367425.9:c.803G>T MANE Select | ENSP00000356395.5:p.Cys268Phe | |
| ENST00000367425.8:c.803G>T | ENSP00000356395.4:p.Cys268Phe | |
| ENST00000367427.7:c.*304G>T | ENSP00000356397.3:n.*304G>T | |
| ENST00000391985.7:c.620G>T | ENSP00000375845.3:p.Cys207Phe | |
| ENST00000461558.2:n.475G>T | ||
| ENST00000617219.1:c.563-1255G>T | ENSP00000481905.1:n.563-1255G>T | |
| NM_001166624.1:c.620G>T | NP_001160096.1:p.Cys207Phe | |
| NM_021023.5:c.803G>T , LRG_175t1:c.803G>T | NP_066303.2:p.Cys268Phe | |
| XR_001736937.1:n.2174G>T | ||
| NM_021023.6:c.803G>T MANE Select | NP_066303.2:p.Cys268Phe | |
| NM_001166624.2:c.620G>T | NP_001160096.1:p.Cys207Phe |