Linked Data
ClinVar Variation Id:
127818
dbSNP Id:
rs587780072
ExAC:
17:7578245 G / A
gnomAD v2:
17-7578245-G-A
gnomAD v3:
17-7674927-G-A
gnomAD v4:
17-7674927-G-A
COSMIC:
COSM46074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7674927G>A , CM000679.2:g.7674927G>A | GRCh38 |
| NC_000017.10:g.7578245G>A , CM000679.1:g.7578245G>A | GRCh37 |
| NC_000017.9:g.7518970G>A | NCBI36 |
| NG_017013.2:g.17624C>T , LRG_321:g.17624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.604C>T | ENSP00000426252.2:p.Arg202Cys | |
| ENST00000508793.6:c.604C>T | ENSP00000424104.2:p.Arg202Cys | |
| ENST00000509690.6:c.208C>T | ENSP00000425104.2:p.Arg70Cys | |
| ENST00000514944.6:c.325C>T | ENSP00000423862.2:p.Arg109Cys | |
| ENST00000604348.6:c.583C>T | ENSP00000473895.2:p.Arg195Cys | |
| ENST00000269305.9:c.604C>T MANE Select | ENSP00000269305.4:p.Arg202Cys | |
| ENST00000269305.8:c.604C>T | ENSP00000269305.4:p.Arg202Cys | |
| ENST00000359597.8:c.604C>T | ENSP00000352610.4:p.Arg202Cys | |
| ENST00000413465.6:c.604C>T | ENSP00000410739.2:p.Arg202Cys | |
| ENST00000420246.6:c.604C>T | ENSP00000391127.2:p.Arg202Cys | |
| ENST00000445888.6:c.604C>T | ENSP00000391478.2:p.Arg202Cys | |
| ENST00000455263.6:c.604C>T | ENSP00000398846.2:p.Arg202Cys | |
| ENST00000504290.5:c.208C>T | ENSP00000484409.1:p.Arg70Cys | |
| ENST00000504937.5:c.208C>T | ENSP00000481179.1:p.Arg70Cys | |
| ENST00000505014.5:n.860C>T | ||
| ENST00000509690.5:c.208C>T | ENSP00000425104.1:p.Arg70Cys | |
| ENST00000510385.5:c.208C>T | ENSP00000478499.1:p.Arg70Cys | |
| ENST00000514944.5:c.325C>T | ENSP00000423862.1:p.Arg109Cys | |
| ENST00000574684.1:n.67+126C>T | ||
| ENST00000610292.4:c.487C>T | ENSP00000478219.1:p.Arg163Cys | |
| ENST00000610538.4:c.487C>T | ENSP00000480868.1:p.Arg163Cys | |
| ENST00000610623.4:c.127C>T | ENSP00000477531.1:p.Arg43Cys | |
| ENST00000615910.4:c.571C>T | ENSP00000482903.1:p.Arg191Cys | |
| ENST00000617185.4:c.604C>T | ENSP00000482258.1:p.Arg202Cys | |
| ENST00000618944.4:c.127C>T | ENSP00000481401.1:p.Arg43Cys | |
| ENST00000619186.4:c.127C>T | ENSP00000484375.1:p.Arg43Cys | |
| ENST00000619485.4:c.487C>T | ENSP00000482537.1:p.Arg163Cys | |
| ENST00000620739.4:c.487C>T | ENSP00000481638.1:p.Arg163Cys | |
| ENST00000622645.4:c.487C>T | ENSP00000482222.1:p.Arg163Cys | |
| ENST00000635293.1:c.487C>T | ENSP00000488924.1:p.Arg163Cys | |
| NM_000546.5:c.604C>T , LRG_321t1:c.604C>T | NP_000537.3:p.Arg202Cys | |
| NM_001126112.2:c.604C>T , LRG_321t2:c.604C>T | NP_001119584.1:p.Arg202Cys | |
| NM_001126113.2:c.604C>T , LRG_321t4:c.604C>T | NP_001119585.1:p.Arg202Cys | |
| NM_001126114.2:c.604C>T , LRG_321t3:c.604C>T | NP_001119586.1:p.Arg202Cys | |
| NM_001126115.1:c.208C>T , LRG_321t5:c.208C>T | NP_001119587.1:p.Arg70Cys | |
| NM_001126116.1:c.208C>T , LRG_321t6:c.208C>T | NP_001119588.1:p.Arg70Cys | |
| NM_001126117.1:c.208C>T , LRG_321t7:c.208C>T | NP_001119589.1:p.Arg70Cys | |
| NM_001126118.1:c.487C>T , LRG_321t8:c.487C>T | NP_001119590.1:p.Arg163Cys | |
| NM_001276695.1:c.487C>T | NP_001263624.1:p.Arg163Cys | |
| NM_001276696.1:c.487C>T | NP_001263625.1:p.Arg163Cys | |
| NM_001276697.1:c.127C>T | NP_001263626.1:p.Arg43Cys | |
| NM_001276698.1:c.127C>T | NP_001263627.1:p.Arg43Cys | |
| NM_001276699.1:c.127C>T | NP_001263628.1:p.Arg43Cys | |
| NM_001276760.1:c.487C>T | NP_001263689.1:p.Arg163Cys | |
| NM_001276761.1:c.487C>T | NP_001263690.1:p.Arg163Cys | |
| NM_001276695.2:c.487C>T | NP_001263624.1:p.Arg163Cys | |
| NM_001276696.2:c.487C>T | NP_001263625.1:p.Arg163Cys | |
| NM_001276697.2:c.127C>T | NP_001263626.1:p.Arg43Cys | |
| NM_001276698.2:c.127C>T | NP_001263627.1:p.Arg43Cys | |
| NM_001276699.2:c.127C>T | NP_001263628.1:p.Arg43Cys | |
| NM_001276760.2:c.487C>T | NP_001263689.1:p.Arg163Cys | |
| NM_001276761.2:c.487C>T | NP_001263690.1:p.Arg163Cys | |
| NM_000546.6:c.604C>T MANE Select | NP_000537.3:p.Arg202Cys | |
| NM_001126112.3:c.604C>T | NP_001119584.1:p.Arg202Cys | |
| NM_001126113.3:c.604C>T | NP_001119585.1:p.Arg202Cys | |
| NM_001126114.3:c.604C>T | NP_001119586.1:p.Arg202Cys | |
| NM_001126115.2:c.208C>T | NP_001119587.1:p.Arg70Cys | |
| NM_001126116.2:c.208C>T | NP_001119588.1:p.Arg70Cys | |
| NM_001126117.2:c.208C>T | NP_001119589.1:p.Arg70Cys | |
| NM_001126118.2:c.487C>T | NP_001119590.1:p.Arg163Cys | |
| NM_001276695.3:c.487C>T | NP_001263624.1:p.Arg163Cys | |
| NM_001276696.3:c.487C>T | NP_001263625.1:p.Arg163Cys | |
| NM_001276697.3:c.127C>T | NP_001263626.1:p.Arg43Cys | |
| NM_001276698.3:c.127C>T | NP_001263627.1:p.Arg43Cys | |
| NM_001276699.3:c.127C>T | NP_001263628.1:p.Arg43Cys | |
| NM_001276760.3:c.487C>T | NP_001263689.1:p.Arg163Cys | |
| NM_001276761.3:c.487C>T | NP_001263690.1:p.Arg163Cys |