Linked Data
ClinVar Variation Id:
156030
dbSNP Id:
rs2729509
ExAC:
15:43910440 A / G
gnomAD v2:
15-43910440-A-G
gnomAD v3:
15-43618242-A-G
gnomAD v4:
15-43618242-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43618242A>G , CM000677.2:g.43618242A>G | GRCh38 |
| NC_000015.9:g.43910440A>G , CM000677.1:g.43910440A>G | GRCh37 |
| NC_000015.8:g.41697732A>G | NCBI36 |
| NG_011636.1:g.5559T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.179T>C MANE Select | ENSP00000401513.2:p.Phe60Ser | |
| ENST00000643290.1:c.504T>C | ENSP00000495476.1:n.504T>C | |
| ENST00000428650.5:c.179T>C | ENSP00000415991.1:p.Phe60Ser | |
| ENST00000440125.5:c.179T>C | ENSP00000394866.1:p.Phe60Ser | |
| ENST00000450892.6:c.179T>C | ENSP00000401513.2:p.Phe60Ser | |
| ENST00000541030.5:c.-1931T>C | ENSP00000440413.1:n.-1931T>C | |
| NM_153700.2:c.179T>C MANE Select | NP_714544.1:p.Phe60Ser | |
| XM_011521277.1:c.668T>C | XP_011519579.1:p.Phe223Ser | |
| XM_011521278.1:c.179T>C | XP_011519580.1:p.Phe60Ser | |
| XM_011521279.1:c.179T>C | XP_011519581.1:p.Phe60Ser |