Linked Data
ClinVar Variation Id:
3180
ClinVar RCV Id:
RCV000003330
dbSNP Id:
rs120074168
PubMed:
PMID:12434312
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42729066A>T , CM000677.2:g.42729066A>T | GRCh38 |
| NC_000015.9:g.43021264A>T , CM000677.1:g.43021264A>T | GRCh37 |
| NC_000015.8:g.40808556A>T | NCBI36 |
| NG_012491.1:g.13154T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356231.4:c.2602T>A MANE Select | ENSP00000348564.3:p.Phe868Ile | |
| ENST00000643434.1:c.*1780T>A | ENSP00000494699.1:n.*1780T>A | |
| ENST00000356231.3:c.2602T>A | ENSP00000348564.3:p.Phe868Ile | |
| ENST00000562465.5:c.595T>A | ENSP00000454246.1:p.Phe199Ile | |
| NM_138477.2:c.2602T>A | NP_612486.2:p.Phe868Ile | |
| XM_005254176.3:c.2605T>A | XP_005254233.1:p.Phe869Ile | |
| XM_011521270.1:c.2629T>A | XP_011519572.1:p.Phe877Ile | |
| XM_011521271.1:c.2626T>A | XP_011519573.1:p.Phe876Ile | |
| XM_011521272.1:c.2629T>A | XP_011519574.1:p.Phe877Ile | |
| XM_011521273.1:c.2629T>A | XP_011519575.1:p.Phe877Ile | |
| XM_011521274.1:c.1594T>A | XP_011519576.1:p.Phe532Ile | |
| XM_011521275.1:c.1846T>A | XP_011519577.1:p.Phe616Ile | |
| NM_138477.4:c.2602T>A MANE Select | NP_612486.2:p.Phe868Ile | |
| XM_005254176.5:c.2605T>A | XP_005254233.1:p.Phe869Ile | |
| XM_011521270.2:c.2629T>A | XP_011519572.1:p.Phe877Ile | |
| XM_011521271.2:c.2626T>A | XP_011519573.1:p.Phe876Ile | |
| XM_011521274.2:c.1594T>A | XP_011519576.1:p.Phe532Ile | |
| XR_001751104.1:n.2659T>A | ||
| XR_001751105.1:n.2659T>A |