Linked Data
ClinVar Variation Id:
1513051
ClinVar RCV Id:
RCV002045808
dbSNP Id:
rs375433525
ExAC:
7:107315544 C / T
gnomAD v2:
7-107315544-C-T
gnomAD v3:
7-107675099-C-T
gnomAD v4:
7-107675099-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107675099C>T , CM000669.2:g.107675099C>T | GRCh38 |
| NC_000007.13:g.107315544C>T , CM000669.1:g.107315544C>T | GRCh37 |
| NC_000007.12:g.107102780C>T | NCBI36 |
| NG_008489.1:g.19465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.755C>T MANE Select | ENSP00000494017.1:p.Ser252Phe | |
| ENST00000265715.7:c.755C>T | ENSP00000265715.3:p.Ser252Phe | |
| NM_000441.1:c.755C>T | NP_000432.1:p.Ser252Phe | |
| XM_005250425.1:c.755C>T | XP_005250482.1:p.Ser252Phe | |
| XM_006716025.2:c.755C>T | XP_006716088.1:p.Ser252Phe | |
| XM_005250425.2:c.755C>T | XP_005250482.1:p.Ser252Phe | |
| XM_006716025.3:c.755C>T | XP_006716088.1:p.Ser252Phe | |
| XM_017012318.1:c.755C>T | XP_016867807.1:p.Ser252Phe | |
| NM_000441.2:c.755C>T MANE Select | NP_000432.1:p.Ser252Phe |