Linked Data
ClinVar Variation Id:
388711
dbSNP Id:
rs143462011
ExAC:
5:127666312 C / T
gnomAD v2:
5-127666312-C-T
gnomAD v3:
5-128330620-C-T
gnomAD v4:
5-128330620-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330620C>T , CM000667.2:g.128330620C>T | GRCh38 |
| NC_000005.9:g.127666312C>T , CM000667.1:g.127666312C>T | GRCh37 |
| NC_000005.8:g.127694211C>T | NCBI36 |
| NG_008750.1:g.212424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1082G>A | ||
| ENST00000703785.1:n.1163G>A | ||
| ENST00000262464.9:c.4298G>A MANE Select | ENSP00000262464.4:p.Arg1433His | |
| ENST00000262464.8:c.4298G>A | ENSP00000262464.4:p.Arg1433His | |
| ENST00000507835.5:c.848G>A | ENSP00000426839.1:p.Arg283His | |
| ENST00000508053.5:c.4298G>A | ENSP00000424571.1:p.Arg1433His | |
| ENST00000508989.5:c.4199G>A | ENSP00000425596.1:p.Arg1400His | |
| ENST00000619499.4:c.4295G>A | ENSP00000482132.1:p.Arg1432His | |
| NM_001999.3:c.4298G>A | NP_001990.2:p.Arg1433His | |
| XM_017009228.2:c.4145G>A | XP_016864717.1:p.Arg1382His | |
| NM_001999.4:c.4298G>A MANE Select | NP_001990.2:p.Arg1433His |