Linked Data
ClinVar Variation Id:
2896
dbSNP Id:
rs137852908
gnomAD v4:
17-44383630-C-T
ERepo:
CA115839/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44383630C>T , CM000679.2:g.44383630C>T | GRCh38 |
| NC_000017.10:g.42460998C>T , CM000679.1:g.42460998C>T | GRCh37 |
| NC_000017.9:g.39816524C>T | NCBI36 |
| NG_008331.1:g.10876G>A , LRG_479:g.10876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.1073G>A MANE Select | ENSP00000262407.5:p.Arg358His | |
| ENST00000648408.1:c.504G>A | ||
| ENST00000262407.5:c.1073G>A | ENSP00000262407.5:p.Arg358His | |
| ENST00000592226.5:n.313G>A | ||
| NM_000419.3:c.1073G>A , LRG_479t1:c.1073G>A | NP_000410.2:p.Arg358His | |
| XM_011524749.1:c.1073G>A | XP_011523051.1:p.Arg358His | |
| XM_011524750.1:c.1073G>A | XP_011523052.1:p.Arg358His | |
| NM_000419.4:c.1073G>A | NP_000410.2:p.Arg358His | |
| NM_000419.5:c.1073G>A MANE Select | NP_000410.2:p.Arg358His |