Linked Data
ClinVar Variation Id:
998307
ClinVar RCV Id:
RCV001294108
dbSNP Id:
rs748870665
ExAC:
16:14041702 G / A
gnomAD v2:
16-14041702-G-A
gnomAD v4:
16-13947845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947845G>A , CM000678.2:g.13947845G>A | GRCh38 |
| NC_000016.9:g.14041702G>A , CM000678.1:g.14041702G>A | GRCh37 |
| NC_000016.8:g.13949203G>A | NCBI36 |
| NG_011442.1:g.32689G>A , LRG_463:g.32689G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2387G>A | ENSP00000507912.1:p.Arg796His | |
| ENST00000683962.1:c.*1943G>A | ENSP00000506854.1:n.*1943G>A | |
| ENST00000311895.8:c.2249G>A MANE Select | ENSP00000310520.7:p.Arg750His | |
| ENST00000311895.7:c.2249G>A | ENSP00000310520.7:p.Arg750His | |
| ENST00000389138.7:n.1526G>A | ||
| ENST00000462862.1:c.562G>A | ENSP00000461322.1:n.562G>A | |
| NM_005236.2:c.2249G>A , LRG_463t1:c.2249G>A | NP_005227.1:p.Arg750His | |
| XM_011522424.1:c.2387G>A | XP_011520726.1:p.Arg796His | |
| XM_011522425.1:c.1706G>A | XP_011520727.1:p.Arg569His | |
| XM_011522426.1:c.1460G>A | XP_011520728.1:p.Arg487His | |
| XM_011522427.1:c.899G>A | XP_011520729.1:p.Arg300His | |
| XR_932805.1:n.2408G>A | ||
| XM_011522424.3:c.2387G>A | XP_011520726.1:p.Arg796His | |
| XM_017023043.2:c.1460G>A | XP_016878532.1:p.Arg487His | |
| NM_005236.3:c.2249G>A MANE Select | NP_005227.1:p.Arg750His |