Linked Data
ClinVar Variation Id:
1044449
ClinVar RCV Id:
RCV001348694
dbSNP Id:
rs1231560062
gnomAD v2:
19-50364745-G-A
gnomAD v4:
19-49861488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861488G>A , CM000681.2:g.49861488G>A | GRCh38 |
| NC_000019.9:g.50364745G>A , CM000681.1:g.50364745G>A | GRCh37 |
| NC_000019.8:g.55056557G>A | NCBI36 |
| NG_027717.1:g.11078C>T | |
| NG_050666.1:g.17645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1409C>T MANE Select | ENSP00000323511.2:p.Ser470Phe | |
| ENST00000636840.1:c.59+120C>T | ||
| ENST00000640501.1:c.15C>T | ||
| ENST00000322344.7:c.1409C>T | ENSP00000323511.2:p.Ser470Phe | |
| ENST00000593946.5:c.*1336C>T | ENSP00000468896.1:n.*1336C>T | |
| ENST00000594661.5:n.1910C>T | ||
| ENST00000595081.5:n.312C>T | ||
| ENST00000596014.5:c.1409C>T | ENSP00000472300.1:p.Ser470Phe | |
| ENST00000597965.2:c.116C>T | ENSP00000471097.2:p.Ser39Phe | |
| ENST00000599454.5:n.329C>T | ||
| ENST00000600573.5:c.1316C>T | ENSP00000469826.1:p.Ser439Phe | |
| ENST00000600910.5:c.1299C>T | ENSP00000473137.1:p.Leu433= | |
| ENST00000601816.3:n.481C>T | ||
| ENST00000625216.2:c.490C>T | ENSP00000486898.1:n.490C>T | |
| ENST00000627232.2:c.1329C>T | ENSP00000486037.1:n.1329C>T | |
| ENST00000631020.2:c.1301C>T | ENSP00000486707.1:p.Ser434Phe | |
| NM_007254.3:c.1409C>T | NP_009185.2:p.Ser470Phe | |
| NM_007254.4:c.1409C>T MANE Select | NP_009185.2:p.Ser470Phe |