Linked Data
ClinVar Variation Id:
56211
dbSNP Id:
rs386833662
gnomAD v2:
1-40544284-A-G
gnomAD v4:
1-40078612-A-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078612A>G , CM000663.2:g.40078612A>G | GRCh38 |
| NC_000001.10:g.40544284A>G , CM000663.1:g.40544284A>G | GRCh37 |
| NC_000001.9:g.40316871A>G | NCBI36 |
| NG_009192.1:g.23859T>C , LRG_690:g.23859T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.671T>C | ENSP00000394863.4:p.Phe224Ser | |
| ENST00000439754.6:c.674T>C | ENSP00000403207.2:p.Phe225Ser | |
| ENST00000449045.7:c.365T>C | ENSP00000392293.2:p.Phe122Ser | |
| ENST00000527311.7:c.443T>C | ENSP00000436695.3:p.Phe148Ser | |
| ENST00000530076.6:c.17T>C | ENSP00000434007.1:p.Phe6Ser | |
| ENST00000530704.6:c.*297T>C | ENSP00000431655.1:n.*297T>C | |
| ENST00000641083.1:c.652T>C | ||
| ENST00000641236.1:n.911T>C | ||
| ENST00000641319.1:c.674T>C | ENSP00000493128.1:p.Phe225Ser | |
| ENST00000641381.1:c.149-1699T>C | ||
| ENST00000641471.1:c.761T>C | ENSP00000493146.1:p.Phe254Ser | |
| ENST00000641691.1:c.*526T>C | ENSP00000492910.1:n.*526T>C | |
| ENST00000641924.1:c.*103T>C | ENSP00000493063.1:n.*103T>C | |
| ENST00000642050.2:c.674T>C MANE Select | ENSP00000493153.1:p.Phe225Ser | |
| ENST00000372775.2:n.71T>C | ||
| ENST00000372779.8:c.761T>C | ENSP00000361865.4:p.Phe254Ser | |
| ENST00000433473.7:c.674T>C | ENSP00000394863.3:p.Phe225Ser | |
| ENST00000439754.5:c.359T>C | ENSP00000403207.1:p.Phe120Ser | |
| ENST00000449045.6:c.365T>C | ENSP00000392293.2:p.Phe122Ser | |
| ENST00000527311.6:c.449T>C | ENSP00000436695.2:p.Phe150Ser | |
| ENST00000529905.5:c.674T>C | ENSP00000432053.1:p.Phe225Ser | |
| ENST00000530076.5:c.17T>C | ENSP00000434007.1:p.Phe6Ser | |
| ENST00000530704.5:c.*297T>C | ENSP00000431655.1:n.*297T>C | |
| NM_000310.3:c.674T>C , LRG_690t1:c.674T>C | NP_000301.1:p.Phe225Ser | |
| NM_001142604.1:c.365T>C | NP_001136076.1:p.Phe122Ser | |
| XM_005271008.1:c.674T>C | XP_005271065.1:p.Phe225Ser | |
| NM_001363695.1:c.674T>C | NP_001350624.1:p.Phe225Ser | |
| NM_000310.4:c.674T>C MANE Select | NP_000301.1:p.Phe225Ser | |
| NM_001142604.2:c.365T>C | NP_001136076.1:p.Phe122Ser | |
| NM_001363695.2:c.674T>C | NP_001350624.1:p.Phe225Ser |