Linked Data
ClinVar Variation Id:
223153
dbSNP Id:
rs550423482
ExAC:
17:46024036 G / A
gnomAD v2:
17-46024036-G-A
gnomAD v3:
17-47946670-G-A
gnomAD v4:
17-47946670-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946670G>A , CM000679.2:g.47946670G>A | GRCh38 |
| NC_000017.10:g.46024036G>A , CM000679.1:g.46024036G>A | GRCh37 |
| NC_000017.9:g.43379035G>A | NCBI36 |
| NG_008744.1:g.10148G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225573.5:c.545G>A | ENSP00000225573.5:p.Arg182His | |
| ENST00000434554.7:c.620G>A | ENSP00000399960.3:p.Arg207His | |
| ENST00000582171.6:c.*339G>A | ENSP00000463994.1:n.*339G>A | |
| ENST00000583599.6:c.434G>A | ENSP00000463919.2:p.Arg145His | |
| ENST00000584061.6:c.605G>A | ENSP00000463972.2:p.Arg202His | |
| ENST00000584806.2:n.343G>A | ||
| ENST00000641285.1:n.454G>A | ||
| ENST00000641305.1:n.2173G>A | ||
| ENST00000641323.1:c.*693G>A | ENSP00000492965.1:n.*693G>A | |
| ENST00000641427.1:n.674G>A | ||
| ENST00000641511.1:c.406G>A | ||
| ENST00000641703.1:c.390G>A | ENSP00000493219.1:n.390G>A | |
| ENST00000641709.1:c.*496G>A | ENSP00000493349.1:n.*496G>A | |
| ENST00000641856.1:c.*1182G>A | ENSP00000493224.1:n.*1182G>A | |
| ENST00000642017.2:c.674G>A MANE Select | ENSP00000493302.2:p.Arg225His | |
| ENST00000225573.4:c.674G>A | ENSP00000225573.4:p.Arg225His | |
| ENST00000434554.6:c.545G>A | ENSP00000399960.2:p.Arg182His | |
| ENST00000582171.5:c.*339G>A | ENSP00000463994.1:n.*339G>A | |
| ENST00000584806.1:n.343G>A | ||
| ENST00000585320.5:c.*156G>A | ENSP00000462345.1:n.*156G>A | |
| NM_018129.3:c.674G>A | NP_060599.1:p.Arg225His | |
| XM_005257500.2:c.434G>A | XP_005257557.1:p.Arg145His | |
| XM_011524968.1:c.389G>A | XP_011523270.1:p.Arg130His | |
| XM_005257500.3:c.434G>A | XP_005257557.1:p.Arg145His | |
| XM_011524968.2:c.389G>A | XP_011523270.1:p.Arg130His | |
| XM_017024813.1:c.434G>A | XP_016880302.1:p.Arg145His | |
| NM_018129.4:c.674G>A MANE Select | NP_060599.1:p.Arg225His |