Linked Data
ClinVar Variation Id:
393453
dbSNP Id:
rs764232985
ExAC:
7:44192980 C / T
gnomAD v2:
7-44192980-C-T
gnomAD v4:
7-44153381-C-T
ERepo:
CA4239718/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153381C>T , CM000669.2:g.44153381C>T | GRCh38 |
| NC_000007.13:g.44192980C>T , CM000669.1:g.44192980C>T | GRCh37 |
| NC_000007.12:g.44159505C>T | NCBI36 |
| NG_008847.1:g.41043G>A | |
| NG_008847.2:g.49790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*126G>A | ENSP00000379142.4:n.*126G>A | |
| ENST00000616242.5:c.128G>A | ENSP00000482149.2:p.Arg43His | |
| ENST00000682635.1:n.614G>A | ||
| ENST00000345378.7:c.131G>A | ENSP00000223366.2:p.Arg44His | |
| ENST00000403799.8:c.128G>A MANE Select | ENSP00000384247.3:p.Arg43His | |
| ENST00000671824.1:c.128G>A | ENSP00000500264.1:p.Arg43His | |
| ENST00000673284.1:c.128G>A | ENSP00000499852.1:p.Arg43His | |
| ENST00000345378.6:c.131G>A | ENSP00000223366.2:p.Arg44His | |
| ENST00000395796.7:c.125G>A | ENSP00000379142.3:p.Arg42His | |
| ENST00000403799.7:c.128G>A | ENSP00000384247.3:p.Arg43His | |
| ENST00000437084.1:c.128G>A | ENSP00000402840.1:p.Arg43His | |
| ENST00000616242.4:c.125G>A | ENSP00000482149.1:p.Arg42His | |
| NM_000162.3:c.128G>A | NP_000153.1:p.Arg43His | |
| NM_033507.1:c.131G>A | NP_277042.1:p.Arg44His | |
| NM_033508.1:c.125G>A | NP_277043.1:p.Arg42His | |
| NM_000162.4:c.128G>A | NP_000153.1:p.Arg43His | |
| NM_001354800.1:c.128G>A | NP_001341729.1:p.Arg43His | |
| NM_033507.2:c.131G>A | NP_277042.1:p.Arg44His | |
| NM_033508.2:c.125G>A | NP_277043.1:p.Arg42His | |
| NM_000162.5:c.128G>A MANE Select | NP_000153.1:p.Arg43His | |
| NM_033507.3:c.131G>A | NP_277042.1:p.Arg44His | |
| NM_033508.3:c.125G>A | NP_277043.1:p.Arg42His |