Linked Data
ClinVar Variation Id:
411824
dbSNP Id:
rs374031658
ExAC:
5:127700346 C / T
gnomAD v2:
5-127700346-C-T
gnomAD v3:
5-128364653-C-T
gnomAD v4:
5-128364653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128364653C>T , CM000667.2:g.128364653C>T | GRCh38 |
| NC_000005.9:g.127700346C>T , CM000667.1:g.127700346C>T | GRCh37 |
| NC_000005.8:g.127728245C>T | NCBI36 |
| NG_008750.1:g.178390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2375G>A MANE Select | ENSP00000262464.4:p.Arg792His | |
| ENST00000262464.8:c.2375G>A | ENSP00000262464.4:p.Arg792His | |
| ENST00000508053.5:c.2375G>A | ENSP00000424571.1:p.Arg792His | |
| ENST00000508989.5:c.2276G>A | ENSP00000425596.1:p.Arg759His | |
| ENST00000619499.4:c.2372G>A | ENSP00000482132.1:p.Arg791His | |
| NM_001999.3:c.2375G>A | NP_001990.2:p.Arg792His | |
| XM_017009228.2:c.2222G>A | XP_016864717.1:p.Arg741His | |
| NM_001999.4:c.2375G>A MANE Select | NP_001990.2:p.Arg792His |