Linked Data
ClinVar Variation Id:
499573
dbSNP Id:
rs770066171
ExAC:
1:64097420 C / T
gnomAD v2:
1-64097420-C-T
gnomAD v4:
1-63631749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63631749C>T , CM000663.2:g.63631749C>T | GRCh38 |
| NC_000001.10:g.64097420C>T , CM000663.1:g.64097420C>T | GRCh37 |
| NC_000001.9:g.63870008C>T | NCBI36 |
| NG_016966.1:g.43474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.649C>T MANE Select | ENSP00000360125.3:p.Arg217Ter | |
| ENST00000650546.1:c.649C>T | ENSP00000497812.1:p.Arg217Ter | |
| ENST00000371083.4:c.703C>T | ENSP00000360124.4:p.Arg235Ter | |
| ENST00000371084.7:c.649C>T | ENSP00000360125.3:p.Arg217Ter | |
| ENST00000540265.5:c.58C>T | ENSP00000443449.1:p.Arg20Ter | |
| NM_001172818.1:c.703C>T | NP_001166289.1:p.Arg235Ter | |
| NM_001172819.1:c.58C>T | NP_001166290.1:p.Arg20Ter | |
| NM_002633.2:c.649C>T | NP_002624.2:p.Arg217Ter | |
| NM_002633.3:c.649C>T MANE Select | NP_002624.2:p.Arg217Ter | |
| NM_001172819.2:c.58C>T | NP_001166290.1:p.Arg20Ter |