Linked Data
dbSNP Id:
rs2102915077
gnomAD v4:
1-156875521-C-A
MyVariant Identifiers:
chr1:g.156845313C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156875521C>A , CM000663.2:g.156875521C>A | GRCh38 |
| NC_000001.10:g.156845313C>A , CM000663.1:g.156845313C>A | GRCh37 |
| NC_000001.9:g.155111937C>A | NCBI36 |
| NG_007493.1:g.64772C>A , LRG_261:g.64772C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1176C>A | ENSP00000502725.1:p.Arg392= | |
| ENST00000392302.7:c.1176C>A | ENSP00000376120.3:p.Arg392= | |
| ENST00000497019.7:c.1043C>A | ENSP00000436804.2:p.Ala348Asp | |
| ENST00000524377.7:c.1356C>A MANE Select | ENSP00000431418.1:p.Arg452= | |
| ENST00000674537.1:c.1176C>A | ENSP00000502725.1:p.Arg392= | |
| ENST00000358660.3:c.1338C>A | ENSP00000351486.3:p.Arg446= | |
| ENST00000368196.7:c.1338C>A | ENSP00000357179.3:p.Arg446= | |
| ENST00000392302.6:c.1248C>A | ENSP00000376120.2:p.Arg416= | |
| ENST00000497019.6:c.1115C>A | ENSP00000436804.1:p.Ala372Asp | |
| ENST00000524377.5:c.1356C>A | ENSP00000431418.1:p.Arg452= | |
| ENST00000530298.5:n.1396C>A | ||
| ENST00000534682.1:n.579C>A | ||
| NM_001007792.1:c.1248C>A , LRG_261t1:c.1248C>A | NP_001007793.1:p.Arg416= | |
| NM_001012331.1:c.1338C>A , LRG_261t2:c.1338C>A | NP_001012331.1:p.Arg446= | |
| NM_002529.3:c.1356C>A , LRG_261t3:c.1356C>A | NP_002520.2:p.Arg452= | |
| NM_001012331.2:c.1338C>A | NP_001012331.1:p.Arg446= | |
| NM_002529.4:c.1356C>A MANE Select | NP_002520.2:p.Arg452= |