Linked Data
ClinVar Variation Id:
204864
dbSNP Id:
rs199767457
ExAC:
5:125891700 T / C
gnomAD v2:
5-125891700-T-C
gnomAD v3:
5-126556008-T-C
gnomAD v4:
5-126556008-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126556008T>C , CM000667.2:g.126556008T>C | GRCh38 |
| NC_000005.9:g.125891700T>C , CM000667.1:g.125891700T>C | GRCh37 |
| NC_000005.8:g.125919599T>C | NCBI36 |
| NG_008600.2:g.44383A>G | |
| NG_008600.3:g.44383A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1016A>G MANE Select | ENSP00000387123.3:p.His339Arg | |
| ENST00000458249.6:c.*925A>G | ENSP00000403929.1:n.*925A>G | |
| ENST00000497231.7:n.1443A>G | ||
| ENST00000503281.6:c.605A>G | ||
| ENST00000509459.6:c.525A>G | ||
| ENST00000635851.1:c.1014A>G | ||
| ENST00000636062.1:n.911A>G | ||
| ENST00000636225.1:c.*960A>G | ENSP00000490797.1:n.*960A>G | |
| ENST00000636286.1:n.734A>G | ||
| ENST00000636482.1:n.503A>G | ||
| ENST00000636743.1:c.896A>G | ENSP00000489725.1:p.His299Arg | |
| ENST00000636808.1:c.*825A>G | ENSP00000490833.1:n.*825A>G | |
| ENST00000636872.1:c.1176A>G | ENSP00000490919.1:n.1176A>G | |
| ENST00000636879.1:c.1061A>G | ENSP00000490811.1:p.His354Arg | |
| ENST00000636886.1:c.815A>G | ENSP00000490371.1:p.His272Arg | |
| ENST00000637206.1:c.914-1615A>G | ENSP00000489895.1:n.914-1615A>G | |
| ENST00000637272.1:c.1007A>G | ENSP00000489686.1:p.His336Arg | |
| ENST00000637292.1:c.589A>G | ||
| ENST00000637782.1:c.1016A>G | ENSP00000490024.1:p.His339Arg | |
| ENST00000637964.1:c.962A>G | ENSP00000490291.1:p.His321Arg | |
| ENST00000638008.1:c.*860A>G | ENSP00000490400.1:n.*860A>G | |
| ENST00000409134.7:c.1016A>G | ENSP00000387123.3:p.His339Arg | |
| ENST00000447989.6:c.1089+3232A>G | ENSP00000414132.2:n.1089+3232A>G | |
| ENST00000497231.6:n.1226A>G | ||
| ENST00000503281.5:c.605A>G | ||
| ENST00000509459.5:c.525A>G | ||
| ENST00000553117.5:c.1008+3232A>G | ENSP00000448593.1:n.1008+3232A>G | |
| NM_001182.4:c.1016A>G | NP_001173.2:p.His339Arg | |
| NM_001201377.1:c.932A>G | NP_001188306.1:p.His311Arg | |
| NM_001202404.1:c.1089+3232A>G | NP_001189333.1:n.1089+3232A>G | |
| XM_011543417.1:c.611A>G | XP_011541719.1:p.His204Arg | |
| XM_011543417.2:c.611A>G | XP_011541719.1:p.His204Arg | |
| NM_001182.5:c.1016A>G MANE Select | NP_001173.2:p.His339Arg | |
| NM_001201377.2:c.932A>G | NP_001188306.1:p.His311Arg | |
| NM_001202404.2:c.1008+3232A>G | NP_001189333.2:n.1008+3232A>G |