Linked Data
dbSNP Id:
rs1659888260
gnomAD v3:
1-94021290-G-A
gnomAD v4:
1-94021290-G-A
MyVariant Identifiers:
chr1:g.94486846G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021290G>A , CM000663.2:g.94021290G>A | GRCh38 |
| NC_000001.10:g.94486846G>A , CM000663.1:g.94486846G>A | GRCh37 |
| NC_000001.9:g.94259434G>A | NCBI36 |
| NG_009073.1:g.104860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4968C>T MANE Select | ENSP00000359245.3:p.Val1656= | |
| ENST00000370225.3:c.4968C>T | ENSP00000359245.3:p.Val1656= | |
| ENST00000460514.1:n.462C>T | ||
| ENST00000470771.1:n.78C>T | ||
| ENST00000536513.5:c.1344C>T | ENSP00000439707.2:p.Val448= | |
| NM_000350.2:c.4968C>T | NP_000341.2:p.Val1656= | |
| NM_000350.3:c.4968C>T MANE Select | NP_000341.2:p.Val1656= |