Linked Data
dbSNP Id:
rs759046094
gnomAD v4:
4-55346471-C-A
MyVariant Identifiers:
chr4:g.56212638C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346471C>A , CM000666.2:g.55346471C>A | GRCh38 |
| NC_000004.11:g.56212638C>A , CM000666.1:g.56212638C>A | GRCh37 |
| NC_000004.10:g.55907395C>A | NCBI36 |
| NG_028230.1:g.5251C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.135C>A MANE Select | ENSP00000264228.4:p.Ile45= | |
| ENST00000679351.1:c.135C>A | ENSP00000505676.1:p.Ile45= | |
| ENST00000679707.1:c.135C>A | ENSP00000505713.1:p.Ile45= | |
| ENST00000679836.1:c.135C>A | ENSP00000506601.1:p.Ile45= | |
| ENST00000680700.1:c.135C>A | ENSP00000504926.1:p.Ile45= | |
| ENST00000264228.8:c.135C>A | ENSP00000264228.4:p.Ile45= | |
| ENST00000505210.1:c.60C>A | ENSP00000424714.1:p.Ile20= | |
| NM_024592.4:c.135C>A | NP_078868.1:p.Ile45= | |
| XM_005265766.2:c.135C>A | XP_005265823.1:p.Ile45= | |
| XM_005265767.2:c.135C>A | XP_005265824.1:p.Ile45= | |
| XM_005265766.4:c.135C>A | XP_005265823.1:p.Ile45= | |
| XM_005265767.3:c.135C>A | XP_005265824.1:p.Ile45= | |
| NM_024592.5:c.135C>A MANE Select | NP_078868.1:p.Ile45= |