Linked Data
ClinVar Variation Id:
16784
dbSNP Id:
rs121913020
ExAC:
19:45871913 C / T
gnomAD v2:
19-45871913-C-T
gnomAD v3:
19-45368655-C-T
gnomAD v4:
19-45368655-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45368655C>T , CM000681.2:g.45368655C>T | GRCh38 |
| NC_000019.9:g.45871913C>T , CM000681.1:g.45871913C>T | GRCh37 |
| NC_000019.8:g.50563753C>T | NCBI36 |
| NG_007067.2:g.6933G>A , LRG_461:g.6933G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.335G>A | ENSP00000375808.4:p.Arg112His | |
| ENST00000682414.1:c.335G>A | ENSP00000507019.1:p.Arg112His | |
| ENST00000682508.1:n.364G>A | ||
| ENST00000684218.1:c.335G>A | ENSP00000507804.1:p.Arg112His | |
| ENST00000684407.1:c.212G>A | ENSP00000507775.1:p.Arg71His | |
| ENST00000684458.1:c.335G>A | ENSP00000508260.1:p.Arg112His | |
| ENST00000391945.10:c.335G>A MANE Select | ENSP00000375809.4:p.Arg112His | |
| ENST00000586131.6:c.263G>A | ENSP00000464887.1:p.Arg88His | |
| ENST00000646507.1:n.432G>A | ||
| ENST00000391941.6:c.263G>A | ENSP00000375805.2:p.Arg88His | |
| ENST00000391944.7:c.335G>A | ENSP00000375808.3:p.Arg112His | |
| ENST00000391945.8:c.335G>A | ENSP00000375809.3:p.Arg112His | |
| ENST00000485403.6:c.263G>A | ENSP00000431229.2:p.Arg88His | |
| ENST00000586131.5:c.263G>A | ENSP00000464887.1:p.Arg88His | |
| ENST00000586441.1:n.327G>A | ||
| ENST00000586737.5:n.330G>A | ||
| ENST00000586856.1:c.185G>A | ENSP00000466998.1:p.Arg62His | |
| ENST00000591309.5:c.335G>A | ENSP00000465207.1:p.Arg112His | |
| NM_000400.3:c.335G>A , LRG_461t1:c.335G>A | NP_000391.1:p.Arg112His | |
| NM_001130867.1:c.263G>A | NP_001124339.1:p.Arg88His | |
| XM_011526611.1:c.257G>A | XP_011524913.1:p.Arg86His | |
| XR_935763.1:n.382G>A | ||
| XM_011526611.2:c.257G>A | XP_011524913.1:p.Arg86His | |
| XM_017026467.1:c.212G>A | XP_016881956.1:p.Arg71His | |
| XR_001753633.2:n.382G>A | ||
| XR_001753634.2:n.382G>A | ||
| NM_000400.4:c.335G>A MANE Select | NP_000391.1:p.Arg112His | |
| NM_001130867.2:c.263G>A | NP_001124339.1:p.Arg88His |