Linked Data
ClinVar Variation Id:
16644
ClinVar RCV Id:
RCV000018124
dbSNP Id:
rs74315384
PubMed:
PMID:8630503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59321127G>T , CM000682.2:g.59321127G>T | GRCh38 |
| NC_000020.10:g.57896182G>T , CM000682.1:g.57896182G>T | GRCh37 |
| NC_000020.9:g.57329577G>T | NCBI36 |
| NG_008050.1:g.25684G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337938.7:c.476G>T MANE Select | ENSP00000337128.2:p.Cys159Phe | |
| ENST00000644821.1:c.476G>T | ENSP00000493472.1:p.Cys159Phe | |
| ENST00000671744.1:n.1117G>T | ||
| ENST00000672969.1:c.313G>T | ||
| ENST00000311585.11:c.476G>T | ENSP00000311854.7:p.Cys159Phe | |
| ENST00000337938.6:c.476G>T | ENSP00000337128.2:p.Cys159Phe | |
| ENST00000371025.7:c.476G>T | ENSP00000360064.3:p.Cys159Phe | |
| ENST00000371028.6:c.476G>T | ENSP00000360067.2:p.Cys159Phe | |
| ENST00000395654.3:c.476G>T | ENSP00000379015.3:p.Cys159Phe | |
| NM_001302455.1:c.476G>T | NP_001289384.1:p.Cys159Phe | |
| NM_001302456.1:c.476G>T | NP_001289385.1:p.Cys159Phe | |
| NM_207032.2:c.476G>T | NP_996915.1:p.Cys159Phe | |
| NM_207033.2:c.476G>T | NP_996916.1:p.Cys159Phe | |
| NM_207034.2:c.476G>T | NP_996917.1:p.Cys159Phe | |
| XM_005260312.3:c.476G>T | XP_005260369.1:p.Cys159Phe | |
| XM_005260313.3:c.476G>T | XP_005260370.1:p.Cys159Phe | |
| XM_006723734.2:c.476G>T | XP_006723797.1:p.Cys159Phe | |
| XM_011528655.1:c.476G>T | XP_011526957.1:p.Cys159Phe | |
| XR_936513.1:n.865G>T | ||
| XM_005260312.4:c.476G>T | XP_005260369.1:p.Cys159Phe | |
| XM_005260313.5:c.476G>T | XP_005260370.1:p.Cys159Phe | |
| XM_006723734.3:c.476G>T | XP_006723797.1:p.Cys159Phe | |
| XM_011528655.2:c.476G>T | XP_011526957.1:p.Cys159Phe | |
| XM_024451847.1:c.476G>T | XP_024307615.1:p.Cys159Phe | |
| XM_024451848.1:c.476G>T | XP_024307616.1:p.Cys159Phe | |
| XR_002958461.1:n.874G>T | ||
| XR_002958462.1:n.874G>T | ||
| XR_936513.2:n.873G>T | ||
| NM_207034.3:c.476G>T MANE Select | NP_996917.1:p.Cys159Phe | |
| NM_001302455.2:c.476G>T | NP_001289384.1:p.Cys159Phe | |
| NM_001302456.2:c.476G>T | NP_001289385.1:p.Cys159Phe | |
| NM_207032.3:c.476G>T | NP_996915.1:p.Cys159Phe | |
| NM_207033.3:c.476G>T | NP_996916.1:p.Cys159Phe |