Linked Data
ClinVar Variation Id:
7545
dbSNP Id:
rs104893640
gnomAD v2:
2-20212184-C-T
gnomAD v3:
2-20012423-C-T
gnomAD v4:
2-20012423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20012423C>T , CM000664.2:g.20012423C>T | GRCh38 |
| NC_000002.11:g.20212184C>T , CM000664.1:g.20212184C>T | GRCh37 |
| NC_000002.10:g.20075665C>T | NCBI36 |
| NG_008087.1:g.5272G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407540.8:c.209G>A MANE Select | ENSP00000383894.3:p.Arg70His | |
| ENST00000407540.7:c.209G>A | ENSP00000383894.3:p.Arg70His | |
| ENST00000421259.2:c.209G>A | ENSP00000398753.2:p.Arg70His | |
| NM_002381.4:c.209G>A | NP_002372.1:p.Arg70His | |
| NM_002381.5:c.209G>A MANE Select | NP_002372.1:p.Arg70His |