Linked Data
dbSNP Id:
rs1645183605
gnomAD v4:
1-62447483-G-A
MyVariant Identifiers:
chr1:g.62913154G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447483G>A , CM000663.2:g.62447483G>A | GRCh38 |
| NC_000001.10:g.62913154G>A , CM000663.1:g.62913154G>A | GRCh37 |
| NC_000001.9:g.62685742G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1392G>A MANE Select | ENSP00000343526.4:p.Glu464= | |
| ENST00000339950.4:c.1392G>A | ENSP00000343526.4:p.Glu464= | |
| ENST00000371146.5:c.1392G>A | ENSP00000360188.1:p.Glu464= | |
| NM_001017415.1:c.1392G>A | NP_001017415.1:p.Glu464= | |
| NM_001017416.1:c.1392G>A | NP_001017416.1:p.Glu464= | |
| NM_003368.4:c.1392G>A | NP_003359.3:p.Glu464= | |
| NM_003368.5:c.1392G>A MANE Select | NP_003359.3:p.Glu464= | |
| NM_001017415.2:c.1392G>A | NP_001017415.1:p.Glu464= | |
| NM_001017416.2:c.1392G>A | NP_001017416.1:p.Glu464= |