Linked Data
ClinVar Variation Id:
1210168
dbSNP Id:
rs756689153
ExAC:
17:45363694 G / A
gnomAD v2:
17-45363694-G-A
gnomAD v3:
17-47286328-G-A
gnomAD v4:
17-47286328-G-A
ERepo:
CA8623025/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286328G>A , CM000679.2:g.47286328G>A | GRCh38 |
| NC_000017.10:g.45363694G>A , CM000679.1:g.45363694G>A | GRCh37 |
| NC_000017.9:g.42718693G>A | NCBI36 |
| NG_008332.2:g.37487G>A , LRG_481:g.37487G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.683G>A | ENSP00000513002.1:p.Arg228His | |
| ENST00000559488.7:c.683G>A MANE Select | ENSP00000452786.2:p.Arg228His | |
| ENST00000559488.5:c.683G>A | ENSP00000452786.1:p.Arg228His | |
| ENST00000560629.1:c.648G>A | ||
| ENST00000571680.1:c.683G>A | ENSP00000461626.1:p.Arg228His | |
| NM_000212.2:c.683G>A , LRG_481t1:c.683G>A | NP_000203.2:p.Arg228His | |
| NM_000212.3:c.683G>A MANE Select | NP_000203.2:p.Arg228His |