Linked Data
ClinVar Variation Id:
2442105
dbSNP Id:
rs1240334553
gnomAD v3:
21-31667365-G-A
gnomAD v4:
21-31667365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667365G>A , CM000683.2:g.31667365G>A | GRCh38 |
| NC_000021.8:g.33039678G>A , CM000683.1:g.33039678G>A | GRCh37 |
| NC_000021.7:g.31961549G>A | NCBI36 |
| NG_008689.1:g.12744G>A , LRG_652:g.12744G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.347G>A MANE Select | ENSP00000270142.7:p.Arg116His | |
| ENST00000270142.10:c.347G>A | ENSP00000270142.6:p.Arg116His | |
| ENST00000389995.4:c.290G>A | ENSP00000374645.4:p.Arg97His | |
| ENST00000470944.1:n.1275G>A | ||
| NM_000454.4:c.347G>A , LRG_652t1:c.347G>A | NP_000445.1:p.Arg116His | |
| NM_000454.5:c.347G>A MANE Select | NP_000445.1:p.Arg116His |