Linked Data
ClinVar Variation Id:
2058661
dbSNP Id:
rs904984161
gnomAD v2:
17-4925505-G-A
gnomAD v3:
17-5022210-G-A
gnomAD v4:
17-5022210-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022210G>A , CM000679.2:g.5022210G>A | GRCh38 |
| NC_000017.10:g.4925505G>A , CM000679.1:g.4925505G>A | GRCh37 |
| NC_000017.9:g.4866229G>A | NCBI36 |
| NG_034137.1:g.29263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2129G>A MANE Select | ENSP00000320821.5:p.Arg710His | |
| ENST00000320785.9:c.2129G>A | ENSP00000320821.5:p.Arg710His | |
| ENST00000573815.1:n.671G>A | ||
| NM_006612.5:c.2129G>A | NP_006603.2:p.Arg710His | |
| XM_005256424.1:c.2129G>A | XP_005256481.1:p.Arg710His | |
| XM_005256424.2:c.2129G>A | XP_005256481.1:p.Arg710His | |
| NM_006612.6:c.2129G>A MANE Select | NP_006603.2:p.Arg710His |