Linked Data
ClinVar Variation Id:
1358910
ClinVar RCV Id:
RCV001894355
dbSNP Id:
rs771910918
ExAC:
1:40557738 A / G
gnomAD v4:
1-40092066-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092066A>G , CM000663.2:g.40092066A>G | GRCh38 |
| NC_000001.10:g.40557738A>G , CM000663.1:g.40557738A>G | GRCh37 |
| NC_000001.9:g.40330325A>G | NCBI36 |
| NG_009192.1:g.10405T>C , LRG_690:g.10405T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*177T>C | ENSP00000361865.5:n.*177T>C | |
| ENST00000433473.8:c.338T>C | ENSP00000394863.4:p.Phe113Ser | |
| ENST00000439754.6:c.341T>C | ENSP00000403207.2:p.Phe114Ser | |
| ENST00000449045.7:c.125-2554T>C | ENSP00000392293.2:n.125-2554T>C | |
| ENST00000526547.2:c.621T>C | ||
| ENST00000527311.7:c.234+332T>C | ENSP00000436695.3:n.234+332T>C | |
| ENST00000530704.6:c.341T>C | ENSP00000431655.1:p.Phe114Ser | |
| ENST00000641083.1:c.319T>C | ||
| ENST00000641236.1:n.578T>C | ||
| ENST00000641319.1:c.341T>C | ENSP00000493128.1:p.Phe114Ser | |
| ENST00000641471.1:c.428T>C | ENSP00000493146.1:p.Phe143Ser | |
| ENST00000641548.1:c.*193T>C | ENSP00000492984.1:n.*193T>C | |
| ENST00000641691.1:c.*193T>C | ENSP00000492910.1:n.*193T>C | |
| ENST00000641924.1:c.124+5049T>C | ENSP00000493063.1:n.124+5049T>C | |
| ENST00000642050.2:c.341T>C MANE Select | ENSP00000493153.1:p.Phe114Ser | |
| ENST00000372779.8:c.428T>C | ENSP00000361865.4:p.Phe143Ser | |
| ENST00000433473.7:c.341T>C | ENSP00000394863.3:p.Phe114Ser | |
| ENST00000439754.5:c.26T>C | ENSP00000403207.1:p.Phe9Ser | |
| ENST00000449045.6:c.125-2554T>C | ENSP00000392293.2:n.125-2554T>C | |
| ENST00000526547.1:c.191T>C | ENSP00000436481.1:p.Phe64Ser | |
| ENST00000527311.6:c.125-9T>C | ENSP00000436695.2:n.125-9T>C | |
| ENST00000529905.5:c.341T>C | ENSP00000432053.1:p.Phe114Ser | |
| ENST00000530704.5:c.341T>C | ENSP00000431655.1:p.Phe114Ser | |
| NM_000310.3:c.341T>C , LRG_690t1:c.341T>C | NP_000301.1:p.Phe114Ser | |
| NM_001142604.1:c.125-2554T>C | NP_001136076.1:n.125-2554T>C | |
| XM_005271008.1:c.341T>C | XP_005271065.1:p.Phe114Ser | |
| NM_001363695.1:c.341T>C | NP_001350624.1:p.Phe114Ser | |
| NM_000310.4:c.341T>C MANE Select | NP_000301.1:p.Phe114Ser | |
| NM_001142604.2:c.125-2554T>C | NP_001136076.1:n.125-2554T>C | |
| NM_001363695.2:c.341T>C | NP_001350624.1:p.Phe114Ser |