Linked Data
ClinVar Variation Id:
139619
ClinVar RCV Id:
RCV000128562
dbSNP Id:
rs587777510
gnomAD v2:
2-25457182-A-G
gnomAD v4:
2-25234313-A-G
PubMed:
PMID:24614070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25234313A>G , CM000664.2:g.25234313A>G | GRCh38 |
| NC_000002.11:g.25457182A>G , CM000664.1:g.25457182A>G | GRCh37 |
| NC_000002.10:g.25310686A>G | NCBI36 |
| NG_029465.2:g.113278T>C , LRG_459:g.113278T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474887.6:c.954T>C | ||
| ENST00000683393.1:c.1851T>C | ENSP00000508654.1:n.1851T>C | |
| ENST00000683760.1:c.2036T>C | ENSP00000507765.1:p.Phe679Ser | |
| ENST00000321117.10:c.2705T>C MANE Select | ENSP00000324375.5:p.Phe902Ser | |
| ENST00000264709.7:c.2705T>C | ENSP00000264709.3:p.Phe902Ser | |
| ENST00000321117.9:c.2705T>C | ENSP00000324375.5:p.Phe902Ser | |
| ENST00000380746.8:c.2138T>C | ENSP00000370122.4:p.Phe713Ser | |
| ENST00000380756.7:c.*558T>C | ENSP00000370132.3:n.*558T>C | |
| ENST00000402667.1:c.2036T>C | ENSP00000384237.1:p.Phe679Ser | |
| NM_022552.4:c.2705T>C , LRG_459t1:c.2705T>C | NP_072046.2:p.Phe902Ser | |
| NM_153759.3:c.2138T>C , LRG_459t2:c.2138T>C | NP_715640.2:p.Phe713Ser | |
| NM_175629.2:c.2705T>C , LRG_459t4:c.2705T>C | NP_783328.1:p.Phe902Ser | |
| XM_005264175.3:c.2705T>C | XP_005264232.1:p.Phe902Ser | |
| XM_005264177.3:c.2036T>C | XP_005264234.1:p.Phe679Ser | |
| XM_006711958.2:c.2261T>C | XP_006712021.1:p.Phe754Ser | |
| XM_011532662.1:c.2558T>C | XP_011530964.1:p.Phe853Ser | |
| XM_011532663.1:c.2540T>C | XP_011530965.1:p.Phe847Ser | |
| XM_011532665.1:c.2249T>C | XP_011530967.1:p.Phe750Ser | |
| XM_011532666.1:c.2177T>C | XP_011530968.1:p.Phe726Ser | |
| XM_011532667.1:c.2036T>C | XP_011530969.1:p.Phe679Ser | |
| NM_001320893.1:c.2249T>C | NP_001307822.1:p.Phe750Ser | |
| NR_135490.1:n.3242T>C | ||
| XM_005264175.5:c.2705T>C | XP_005264232.1:p.Phe902Ser | |
| XM_005264177.4:c.2036T>C | XP_005264234.1:p.Phe679Ser | |
| XM_011532662.2:c.2558T>C | XP_011530964.1:p.Phe853Ser | |
| XM_011532663.2:c.2540T>C | XP_011530965.1:p.Phe847Ser | |
| XM_011532666.2:c.2177T>C | XP_011530968.1:p.Phe726Ser | |
| XM_011532667.3:c.2036T>C | XP_011530969.1:p.Phe679Ser | |
| XM_017003526.1:c.2705T>C | XP_016859015.1:p.Phe902Ser | |
| XM_017003527.1:c.2036T>C | XP_016859016.1:p.Phe679Ser | |
| XR_001738657.1:n.2912T>C | ||
| NM_001375819.1:c.2036T>C | NP_001362748.1:p.Phe679Ser | |
| NR_135490.2:n.3135T>C | ||
| NM_022552.5:c.2705T>C MANE Select | NP_072046.2:p.Phe902Ser |