Linked Data
ClinVar Variation Id:
1956570
ClinVar RCV Id:
RCV002700939
dbSNP Id:
rs1646669343
gnomAD v3:
1-1804448-C-T
gnomAD v4:
1-1804448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1804448C>T , CM000663.2:g.1804448C>T | GRCh38 |
| NC_000001.10:g.1735887C>T , CM000663.1:g.1735887C>T | GRCh37 |
| NC_000001.9:g.1725747C>T | NCBI36 |
| NG_047052.1:g.91670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439272.7:c.362G>A | ENSP00000399741.3:p.Arg121His | |
| ENST00000615252.5:c.101G>A | ENSP00000483532.1:p.Arg34His | |
| ENST00000703692.1:c.401G>A | ENSP00000515427.1:p.Arg134His | |
| ENST00000703693.1:c.401G>A | ENSP00000515428.1:p.Arg134His | |
| ENST00000703694.1:c.401G>A | ENSP00000515429.1:p.Arg134His | |
| ENST00000703695.1:c.401G>A | ENSP00000515430.1:p.Arg134His | |
| ENST00000703696.1:c.401G>A | ENSP00000515431.1:p.Arg134His | |
| ENST00000703697.1:c.401G>A | ENSP00000515432.1:p.Arg134His | |
| ENST00000703699.1:c.401G>A | ENSP00000515433.1:p.Arg134His | |
| ENST00000703700.1:c.401G>A | ENSP00000515434.1:p.Arg134His | |
| ENST00000703701.1:c.401G>A | ENSP00000515435.1:p.Arg134His | |
| ENST00000703702.1:c.401G>A | ENSP00000515436.1:p.Arg134His | |
| ENST00000703703.1:c.401G>A | ENSP00000515437.1:p.Arg134His | |
| ENST00000703704.1:c.401G>A | ENSP00000515438.1:p.Arg134His | |
| ENST00000703705.1:c.269G>A | ENSP00000515439.1:p.Arg90His | |
| ENST00000703706.1:c.401G>A | ENSP00000515440.1:p.Arg134His | |
| ENST00000703707.1:c.362G>A | ENSP00000515441.1:p.Arg121His | |
| ENST00000703708.1:c.401G>A | ENSP00000515442.1:p.Arg134His | |
| ENST00000703709.1:c.401G>A | ENSP00000515443.1:p.Arg134His | |
| ENST00000703710.1:c.401G>A | ENSP00000515444.1:p.Arg134His | |
| ENST00000703711.1:c.401G>A | ENSP00000515445.1:p.Arg134His | |
| ENST00000378609.9:c.401G>A MANE Select | ENSP00000367872.3:p.Arg134His | |
| ENST00000378609.8:c.401G>A | ENSP00000367872.3:p.Arg134His | |
| ENST00000434686.6:c.401G>A | ENSP00000392765.2:p.Arg134His | |
| ENST00000439272.6:c.362G>A | ENSP00000399741.2:p.Arg121His | |
| ENST00000471354.1:n.1005G>A | ||
| ENST00000610897.4:c.401G>A | ENSP00000481878.1:p.Arg134His | |
| ENST00000615252.4:c.101G>A | ENSP00000483532.1:p.Arg34His | |
| NM_001282538.1:c.101G>A | NP_001269467.1:p.Arg34His | |
| NM_001282539.1:c.401G>A | NP_001269468.1:p.Arg134His | |
| NM_002074.4:c.401G>A | NP_002065.1:p.Arg134His | |
| XM_017001059.2:c.401G>A | XP_016856548.1:p.Arg134His | |
| XM_017001060.2:c.401G>A | XP_016856549.1:p.Arg134His | |
| XM_017001061.2:c.401G>A | XP_016856550.1:p.Arg134His | |
| XM_024446495.1:c.401G>A | XP_024302263.1:p.Arg134His | |
| NM_002074.5:c.401G>A MANE Select | NP_002065.1:p.Arg134His | |
| NM_001282538.2:c.101G>A | NP_001269467.1:p.Arg34His | |
| NM_001282539.2:c.401G>A | NP_001269468.1:p.Arg134His |