Linked Data
ClinVar Variation Id:
646560
dbSNP Id:
rs150152888
ExAC:
1:6534519 C / T
gnomAD v2:
1-6534519-C-T
gnomAD v3:
1-6474459-C-T
gnomAD v4:
1-6474459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6474459C>T , CM000663.2:g.6474459C>T | GRCh38 |
| NC_000001.10:g.6534519C>T , CM000663.1:g.6534519C>T | GRCh37 |
| NC_000001.9:g.6457106C>T | NCBI36 |
| NG_007978.1:g.50551G>A , LRG_262:g.50551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.431G>A | ENSP00000344570.5:p.Arg144His | |
| ENST00000377728.8:c.431G>A MANE Select | ENSP00000366957.3:p.Arg144His | |
| ENST00000377740.5:c.431G>A | ENSP00000366969.4:p.Arg144His | |
| ENST00000377748.6:c.605G>A | ENSP00000366977.2:p.Arg202His | |
| ENST00000400913.6:c.431G>A | ENSP00000383704.1:p.Arg144His | |
| ENST00000400915.8:c.542G>A | ENSP00000383706.4:p.Arg181His | |
| ENST00000489097.6:n.907G>A | ||
| ENST00000535355.6:c.638G>A | ENSP00000441445.1:p.Arg213His | |
| ENST00000537245.6:c.542G>A | ENSP00000439625.2:p.Arg181His | |
| ENST00000673471.2:c.728G>A | ENSP00000500749.1:p.Arg243His | |
| ENST00000674790.1:c.*643G>A | ENSP00000502815.1:n.*643G>A | |
| ENST00000675123.1:c.431G>A | ENSP00000502132.1:p.Arg144His | |
| ENST00000675548.1:c.*259G>A | ENSP00000502684.1:n.*259G>A | |
| ENST00000675694.1:c.431G>A | ENSP00000501925.1:p.Arg144His | |
| ENST00000676255.1:c.393G>A | ENSP00000502459.1:n.393G>A | |
| ENST00000340850.9:c.431G>A | ENSP00000344570.5:p.Arg144His | |
| ENST00000377725.5:c.431G>A | ENSP00000366954.1:p.Arg144His | |
| ENST00000377728.7:c.431G>A | ENSP00000366957.3:p.Arg144His | |
| ENST00000377732.5:c.542G>A | ENSP00000366961.1:p.Arg181His | |
| ENST00000377740.4:c.662G>A | ENSP00000366969.3:p.Arg221His | |
| ENST00000377748.5:c.662G>A | ENSP00000366977.1:p.Arg221His | |
| ENST00000400913.5:c.431G>A | ENSP00000383704.1:p.Arg144His | |
| ENST00000400915.7:c.599G>A | ENSP00000383706.3:p.Arg200His | |
| ENST00000489097.5:n.907G>A | ||
| ENST00000535355.5:c.638G>A | ENSP00000441445.1:p.Arg213His | |
| ENST00000537245.5:c.668G>A | ENSP00000439625.1:p.Arg223His | |
| NM_001042663.1:c.599G>A | NP_001036128.1:p.Arg200His | |
| NM_001042664.1:c.431G>A | NP_001036129.1:p.Arg144His | |
| NM_001042665.1:c.431G>A | NP_001036130.1:p.Arg144His | |
| NM_001265592.1:c.668G>A | NP_001252521.1:p.Arg223His | |
| NM_001265593.1:c.638G>A | NP_001252522.1:p.Arg213His | |
| NM_001265594.1:c.431G>A | NP_001252523.1:p.Arg144His | |
| NM_020631.4:c.431G>A | NP_065682.2:p.Arg144His | |
| NM_198681.3:c.662G>A | NP_941374.2:p.Arg221His | |
| NM_001042663.2:c.599G>A | NP_001036128.1:p.Arg200His | |
| NM_001265594.2:c.431G>A | NP_001252523.1:p.Arg144His | |
| NM_020631.5:c.431G>A | NP_065682.2:p.Arg144His | |
| NM_001042663.3:c.542G>A | NP_001036128.2:p.Arg181His | |
| NM_001265592.2:c.542G>A | NP_001252521.2:p.Arg181His | |
| NM_020631.6:c.431G>A MANE Select | NP_065682.2:p.Arg144His | |
| NM_198681.4:c.431G>A | NP_941374.3:p.Arg144His |