Linked Data
ClinVar Variation Id:
2829119
ClinVar RCV Id:
RCV003693990
gnomAD v4:
1-94056790-G-A
MyVariant Identifiers:
chr1:g.94522346G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056790G>A , CM000663.2:g.94056790G>A | GRCh38 |
| NC_000001.10:g.94522346G>A , CM000663.1:g.94522346G>A | GRCh37 |
| NC_000001.9:g.94294934G>A | NCBI36 |
| NG_009073.1:g.69360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2193C>T MANE Select | ENSP00000359245.3:p.Phe731= | |
| ENST00000649773.1:c.2161-1475C>T | ENSP00000496882.1:n.2161-1475C>T | |
| ENST00000370225.3:c.2193C>T | ENSP00000359245.3:p.Phe731= | |
| ENST00000536513.5:c.-65+6384C>T | ENSP00000439707.2:n.-65+6384C>T | |
| NM_000350.2:c.2193C>T | NP_000341.2:p.Phe731= | |
| NM_000350.3:c.2193C>T MANE Select | NP_000341.2:p.Phe731= |