Linked Data
ClinVar Variation Id:
465333
dbSNP Id:
rs1270423610
gnomAD v2:
5-125904026-G-A
gnomAD v4:
5-126568334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126568334G>A , CM000667.2:g.126568334G>A | GRCh38 |
| NC_000005.9:g.125904026G>A , CM000667.1:g.125904026G>A | GRCh37 |
| NC_000005.8:g.125931925G>A | NCBI36 |
| NG_008600.2:g.32057C>T | |
| NG_008600.3:g.32057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.796C>T MANE Select | ENSP00000387123.3:p.Arg266Ter | |
| ENST00000413020.6:c.796C>T | ENSP00000487936.1:p.Arg266Ter | |
| ENST00000458249.6:c.*705C>T | ENSP00000403929.1:n.*705C>T | |
| ENST00000503281.6:c.385C>T | ||
| ENST00000509459.6:c.344C>T | ||
| ENST00000511266.6:n.1518C>T | ||
| ENST00000635851.1:c.794C>T | ||
| ENST00000636062.1:n.691C>T | ||
| ENST00000636225.1:c.*605C>T | ENSP00000490797.1:n.*605C>T | |
| ENST00000636286.1:n.514C>T | ||
| ENST00000636743.1:c.676C>T | ENSP00000489725.1:p.Arg226Ter | |
| ENST00000636808.1:c.*605C>T | ENSP00000490833.1:n.*605C>T | |
| ENST00000636872.1:c.956C>T | ENSP00000490919.1:n.956C>T | |
| ENST00000636879.1:c.841C>T | ENSP00000490811.1:p.Arg281Ter | |
| ENST00000636886.1:c.595C>T | ENSP00000490371.1:p.Arg199Ter | |
| ENST00000636892.1:n.2804C>T | ||
| ENST00000637206.1:c.796C>T | ENSP00000489895.1:p.Arg266Ter | |
| ENST00000637272.1:c.796C>T | ENSP00000489686.1:p.Arg266Ter | |
| ENST00000637292.1:c.426+2448C>T | ||
| ENST00000637782.1:c.796C>T | ENSP00000490024.1:p.Arg266Ter | |
| ENST00000637964.1:c.742C>T | ENSP00000490291.1:p.Arg248Ter | |
| ENST00000638008.1:c.*715+2448C>T | ENSP00000490400.1:n.*715+2448C>T | |
| ENST00000409134.7:c.796C>T | ENSP00000387123.3:p.Arg266Ter | |
| ENST00000413020.5:c.796C>T | ENSP00000487936.1:p.Arg266Ter | |
| ENST00000433026.5:n.323C>T | ||
| ENST00000447989.6:c.877C>T | ENSP00000414132.2:p.Arg293Ter | |
| ENST00000458249.5:c.956C>T | ENSP00000403929.1:n.956C>T | |
| ENST00000503281.5:c.385C>T | ||
| ENST00000509459.5:c.344C>T | ||
| ENST00000510111.6:c.709C>T | ENSP00000447388.1:p.Arg237Ter | |
| ENST00000553117.5:c.796C>T | ENSP00000448593.1:p.Arg266Ter | |
| NM_001182.4:c.796C>T | NP_001173.2:p.Arg266Ter | |
| NM_001201377.1:c.712C>T | NP_001188306.1:p.Arg238Ter | |
| NM_001202404.1:c.877C>T | NP_001189333.1:p.Arg293Ter | |
| XM_011543417.1:c.391C>T | XP_011541719.1:p.Arg131Ter | |
| XM_011543417.2:c.391C>T | XP_011541719.1:p.Arg131Ter | |
| NM_001182.5:c.796C>T MANE Select | NP_001173.2:p.Arg266Ter | |
| NM_001201377.2:c.712C>T | NP_001188306.1:p.Arg238Ter | |
| NM_001202404.2:c.796C>T | NP_001189333.2:p.Arg266Ter |