Linked Data
ClinVar Variation Id:
996065
ClinVar RCV Id:
RCV001290342
dbSNP Id:
rs2041098364
gnomAD v3:
17-81934395-T-C
gnomAD v4:
17-81934395-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81934395T>C , CM000679.2:g.81934395T>C | GRCh38 |
| NC_000017.10:g.79892271T>C , CM000679.1:g.79892271T>C | GRCh37 |
| NC_000017.9:g.77485562T>C | NCBI36 |
| NG_023032.1:g.7698A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329875.13:c.728A>G MANE Select | ENSP00000328858.8:p.His243Arg | |
| ENST00000329875.12:c.728A>G | ENSP00000328858.8:p.His243Arg | |
| ENST00000337943.9:c.728A>G | ENSP00000336579.5:p.His243Arg | |
| ENST00000402252.6:c.809A>G | ENSP00000384949.2:p.His270Arg | |
| ENST00000403172.8:c.635A>G | ENSP00000385483.4:p.His212Arg | |
| ENST00000405481.8:c.728A>G | ENSP00000386002.4:p.His243Arg | |
| ENST00000577756.5:c.633+258A>G | ENSP00000463352.1:n.633+258A>G | |
| ENST00000582198.5:c.638A>G | ENSP00000463226.1:p.His213Arg | |
| ENST00000584848.5:c.501+531A>G | ENSP00000463342.1:n.501+531A>G | |
| ENST00000619204.4:c.728A>G | ENSP00000479793.1:p.His243Arg | |
| ENST00000629768.2:c.633+258A>G | ENSP00000485679.1:n.633+258A>G | |
| NM_001282279.1:c.635A>G | NP_001269208.1:p.His212Arg | |
| NM_001282280.1:c.728A>G | NP_001269209.1:p.His243Arg | |
| NM_001282281.1:c.809A>G | NP_001269210.1:p.His270Arg | |
| NM_006907.3:c.728A>G | NP_008838.2:p.His243Arg | |
| NM_153824.2:c.728A>G | NP_722546.1:p.His243Arg | |
| XM_005256381.1:c.728A>G | XP_005256438.1:p.His243Arg | |
| XM_011523583.1:c.728A>G | XP_011521885.1:p.His243Arg | |
| XM_011523584.1:c.728A>G | XP_011521886.1:p.His243Arg | |
| XM_011523585.1:c.714+258A>G | XP_011521887.1:n.714+258A>G | |
| NM_001330523.1:c.633+258A>G | NP_001317452.1:n.633+258A>G | |
| XM_005256381.2:c.728A>G | XP_005256438.1:p.His243Arg | |
| XM_011523583.2:c.728A>G | XP_011521885.1:p.His243Arg | |
| XM_011523584.3:c.728A>G | XP_011521886.1:p.His243Arg | |
| XM_011523585.2:c.714+258A>G | XP_011521887.1:n.714+258A>G | |
| XM_024450849.1:c.728A>G | XP_024306617.1:p.His243Arg | |
| NM_001282279.2:c.635A>G | NP_001269208.1:p.His212Arg | |
| NM_001282281.2:c.809A>G | NP_001269210.1:p.His270Arg | |
| NM_006907.4:c.728A>G MANE Select | NP_008838.2:p.His243Arg | |
| NM_153824.3:c.728A>G | NP_722546.1:p.His243Arg | |
| NM_001282280.2:c.728A>G | NP_001269209.1:p.His243Arg | |
| NM_001330523.2:c.633+258A>G | NP_001317452.1:n.633+258A>G |