Linked Data
ClinVar Variation Id:
2986126
ClinVar RCV Id:
RCV003843797
dbSNP Id:
rs1662606435
gnomAD v4:
1-94111572-G-A
MyVariant Identifiers:
chr1:g.94577128G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94111572G>A , CM000663.2:g.94111572G>A | GRCh38 |
| NC_000001.10:g.94577128G>A , CM000663.1:g.94577128G>A | GRCh37 |
| NC_000001.9:g.94349716G>A | NCBI36 |
| NG_009073.1:g.14578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.168C>T MANE Select | ENSP00000359245.3:p.Phe56= | |
| ENST00000649773.1:c.168C>T | ENSP00000496882.1:p.Phe56= | |
| ENST00000370225.3:c.168C>T | ENSP00000359245.3:p.Phe56= | |
| NM_000350.2:c.168C>T | NP_000341.2:p.Phe56= | |
| NM_000350.3:c.168C>T MANE Select | NP_000341.2:p.Phe56= |