Linked Data
ClinVar Variation Id:
423103
ClinVar RCV Id:
RCV001824138
dbSNP Id:
rs555563029
gnomAD v2:
10-72195109-C-T
gnomAD v4:
10-70435353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435353C>T , CM000672.2:g.70435353C>T | GRCh38 |
| NC_000010.10:g.72195109C>T , CM000672.1:g.72195109C>T | GRCh37 |
| NC_000010.9:g.71865115C>T | NCBI36 |
| NG_012448.1:g.11357G>A | |
| NG_012448.2:g.17596G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287139.8:c.824G>A MANE Select | ENSP00000287139.3:p.Arg275His | |
| ENST00000287139.7:c.824G>A | ENSP00000287139.3:p.Arg275His | |
| ENST00000414871.1:c.659G>A | ENSP00000394468.1:p.Arg220His | |
| NM_018055.4:c.824G>A | NP_060525.3:p.Arg275His | |
| NM_001329906.1:c.425G>A | NP_001316835.1:p.Arg142His | |
| XM_024448028.1:c.425G>A | XP_024303796.1:p.Arg142His | |
| NM_018055.5:c.824G>A MANE Select | NP_060525.3:p.Arg275His | |
| NM_001329906.2:c.425G>A | NP_001316835.1:p.Arg142His |