Linked Data
ClinVar Variation Id:
2928333
ClinVar RCV Id:
RCV003787155
dbSNP Id:
rs1335020103
gnomAD v2:
20-10393431-A-G
gnomAD v4:
20-10412783-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412783A>G , CM000682.2:g.10412783A>G | GRCh38 |
| NC_000020.10:g.10393431A>G , CM000682.1:g.10393431A>G | GRCh37 |
| NC_000020.9:g.10341431A>G | NCBI36 |
| NG_009109.1:g.26436T>C | |
| NG_009109.2:g.26436T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.732T>C | ENSP00000498849.1:p.Phe244= | |
| ENST00000652676.1:n.459-83T>C | ||
| ENST00000347364.7:c.732T>C MANE Select | ENSP00000246062.4:p.Phe244= | |
| ENST00000399054.6:c.732T>C | ENSP00000382008.2:p.Phe244= | |
| NM_018848.3:c.732T>C | NP_061336.1:p.Phe244= | |
| NM_170784.2:c.732T>C | NP_740754.1:p.Phe244= | |
| NR_072977.1:n.364-3980T>C | ||
| NR_072977.2:n.347-3980T>C | ||
| NM_170784.3:c.732T>C MANE Select | NP_740754.1:p.Phe244= |