Linked Data
ClinVar Variation Id:
16649
ClinVar RCV Id:
RCV000018129
dbSNP Id:
rs74315385
PubMed:
PMID:11303518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59321158C>A , CM000682.2:g.59321158C>A | GRCh38 |
| NC_000020.10:g.57896213C>A , CM000682.1:g.57896213C>A | GRCh37 |
| NC_000020.9:g.57329608C>A | NCBI36 |
| NG_008050.1:g.25715C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337938.7:c.507C>A MANE Select | ENSP00000337128.2:p.Cys169Ter | |
| ENST00000644821.1:c.507C>A | ENSP00000493472.1:p.Cys169Ter | |
| ENST00000671744.1:n.1148C>A | ||
| ENST00000672969.1:c.344C>A | ||
| ENST00000311585.11:c.507C>A | ENSP00000311854.7:p.Cys169Ter | |
| ENST00000337938.6:c.507C>A | ENSP00000337128.2:p.Cys169Ter | |
| ENST00000371025.7:c.507C>A | ENSP00000360064.3:p.Cys169Ter | |
| ENST00000371028.6:c.507C>A | ENSP00000360067.2:p.Cys169Ter | |
| ENST00000395654.3:c.507C>A | ENSP00000379015.3:p.Cys169Ter | |
| NM_001302455.1:c.507C>A | NP_001289384.1:p.Cys169Ter | |
| NM_001302456.1:c.507C>A | NP_001289385.1:p.Cys169Ter | |
| NM_207032.2:c.507C>A | NP_996915.1:p.Cys169Ter | |
| NM_207033.2:c.507C>A | NP_996916.1:p.Cys169Ter | |
| NM_207034.2:c.507C>A | NP_996917.1:p.Cys169Ter | |
| XM_005260312.3:c.507C>A | XP_005260369.1:p.Cys169Ter | |
| XM_005260313.3:c.507C>A | XP_005260370.1:p.Cys169Ter | |
| XM_006723734.2:c.507C>A | XP_006723797.1:p.Cys169Ter | |
| XM_011528655.1:c.507C>A | XP_011526957.1:p.Cys169Ter | |
| XR_936513.1:n.896C>A | ||
| XM_005260312.4:c.507C>A | XP_005260369.1:p.Cys169Ter | |
| XM_005260313.5:c.507C>A | XP_005260370.1:p.Cys169Ter | |
| XM_006723734.3:c.507C>A | XP_006723797.1:p.Cys169Ter | |
| XM_011528655.2:c.507C>A | XP_011526957.1:p.Cys169Ter | |
| XM_024451847.1:c.507C>A | XP_024307615.1:p.Cys169Ter | |
| XM_024451848.1:c.507C>A | XP_024307616.1:p.Cys169Ter | |
| XR_002958461.1:n.905C>A | ||
| XR_002958462.1:n.905C>A | ||
| XR_936513.2:n.904C>A | ||
| NM_207034.3:c.507C>A MANE Select | NP_996917.1:p.Cys169Ter | |
| NM_001302455.2:c.507C>A | NP_001289384.1:p.Cys169Ter | |
| NM_001302456.2:c.507C>A | NP_001289385.1:p.Cys169Ter | |
| NM_207032.3:c.507C>A | NP_996915.1:p.Cys169Ter | |
| NM_207033.3:c.507C>A | NP_996916.1:p.Cys169Ter |