Linked Data
ClinVar Variation Id:
2074886
ClinVar RCV Id:
RCV002963119
dbSNP Id:
rs1224874110
gnomAD v3:
14-49633294-G-A
gnomAD v4:
14-49633294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49633294G>A , CM000676.2:g.49633294G>A | GRCh38 |
| NC_000014.8:g.50100012G>A , CM000676.1:g.50100012G>A | GRCh37 |
| NC_000014.7:g.49169762G>A | NCBI36 |
| NG_013070.1:g.6937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.1856C>T MANE Select | ENSP00000298292.8:p.Ser619Phe | |
| ENST00000298292.12:c.1856C>T | ENSP00000298292.8:p.Ser619Phe | |
| ENST00000406043.3:c.1856C>T | ENSP00000384862.3:p.Ser619Phe | |
| NM_001083908.1:c.1856C>T | NP_001077377.1:p.Ser619Phe | |
| NM_018139.2:c.1856C>T | NP_060609.2:p.Ser619Phe | |
| NM_001083908.2:c.1856C>T | NP_001077377.1:p.Ser619Phe | |
| NM_001378453.1:c.-205+189C>T | NP_001365382.1:n.-205+189C>T | |
| NM_018139.3:c.1856C>T MANE Select | NP_060609.2:p.Ser619Phe |