Linked Data
ClinVar Variation Id:
129765
ClinVar RCV Id:
RCV000117780
dbSNP Id:
rs4536103
ExAC:
10:71332204 A / G
gnomAD v2:
10-71332204-A-G
gnomAD v3:
10-69572448-A-G
gnomAD v4:
10-69572448-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69572448A>G , CM000672.2:g.69572448A>G | GRCh38 |
| NC_000010.10:g.71332204A>G , CM000672.1:g.71332204A>G | GRCh37 |
| NC_000010.9:g.71002210A>G | NCBI36 |
| NG_021321.1:g.6007T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242462.5:c.596T>C MANE Select | ENSP00000242462.4:p.Phe199Ser | |
| ENST00000242462.4:c.596T>C | ENSP00000242462.4:p.Phe199Ser | |
| NM_020999.3:c.596T>C | NP_066279.2:p.Phe199Ser | |
| XM_017016280.1:c.596T>C | XP_016871769.1:p.Phe199Ser | |
| NM_020999.4:c.596T>C MANE Select | NP_066279.2:p.Phe199Ser |