Linked Data
ClinVar Variation Id:
187884
ClinVar RCV Id:
RCV000167604
dbSNP Id:
rs786204019
gnomAD v4:
1-11796217-A-C
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796217A>C , CM000663.2:g.11796217A>C | GRCh38 |
| NC_000001.10:g.11856274A>C , CM000663.1:g.11856274A>C | GRCh37 |
| NC_000001.9:g.11778861A>C | NCBI36 |
| NG_013351.1:g.14887T>G , LRG_726:g.14887T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.892T>G | ENSP00000365770.1:p.Phe298Val | |
| ENST00000376590.9:c.769T>G MANE Select | ENSP00000365775.3:p.Phe257Val | |
| ENST00000376592.6:c.769T>G | ENSP00000365777.1:p.Phe257Val | |
| ENST00000423400.7:c.889T>G | ENSP00000398908.3:p.Phe297Val | |
| ENST00000641407.1:c.769T>G | ENSP00000493098.1:p.Phe257Val | |
| ENST00000641446.1:c.769T>G | ENSP00000493262.1:p.Phe257Val | |
| ENST00000641721.1:n.644-869T>G | ||
| ENST00000641747.1:c.*281T>G | ENSP00000493116.1:n.*281T>G | |
| ENST00000641759.1:n.904T>G | ||
| ENST00000641805.1:n.1052T>G | ||
| ENST00000641820.1:c.34T>G | ENSP00000492937.1:p.Phe12Val | |
| ENST00000376583.7:c.892T>G | ENSP00000365767.3:p.Phe298Val | |
| ENST00000376585.5:c.892T>G | ENSP00000365770.1:p.Phe298Val | |
| ENST00000376590.7:c.769T>G | ENSP00000365775.3:p.Phe257Val | |
| ENST00000376592.5:c.769T>G | ENSP00000365777.1:p.Phe257Val | |
| NM_005957.4:c.769T>G , LRG_726t1:c.769T>G | NP_005948.3:p.Phe257Val | |
| XM_005263458.2:c.892T>G | XP_005263515.1:p.Phe298Val | |
| XM_005263460.3:c.769T>G | XP_005263517.1:p.Phe257Val | |
| XM_005263461.3:c.769T>G | XP_005263518.1:p.Phe257Val | |
| XM_005263462.3:c.769T>G | XP_005263519.1:p.Phe257Val | |
| XM_005263463.2:c.523T>G | XP_005263520.1:p.Phe175Val | |
| XM_011541495.1:c.889T>G | XP_011539797.1:p.Phe297Val | |
| XM_011541496.1:c.892T>G | XP_011539798.1:p.Phe298Val | |
| NM_001330358.1:c.892T>G | NP_001317287.1:p.Phe298Val | |
| XM_005263460.5:c.769T>G | XP_005263517.1:p.Phe257Val | |
| XM_005263462.4:c.769T>G | XP_005263519.1:p.Phe257Val | |
| XM_005263463.4:c.523T>G | XP_005263520.1:p.Phe175Val | |
| XM_011541495.3:c.889T>G | XP_011539797.1:p.Phe297Val | |
| XM_011541496.3:c.892T>G | XP_011539798.1:p.Phe298Val | |
| XM_017001328.2:c.892T>G | XP_016856817.1:p.Phe298Val | |
| XM_024447198.1:c.523T>G | XP_024302966.1:p.Phe175Val | |
| XR_002956640.1:n.1636T>G | ||
| NM_005957.5:c.769T>G MANE Select | NP_005948.3:p.Phe257Val | |
| NM_001330358.2:c.892T>G | NP_001317287.1:p.Phe298Val |