Linked Data
ClinVar Variation Id:
245851
ClinVar RCV Id:
RCV000235329
RCV000422641
RCV000426785
RCV000438017
RCV000439251
RCV000439855
RCV000440307
RCV000442812
RCV000417778
RCV000418929
RCV000785238
RCV000421969
RCV000427794
RCV000433090
RCV000433333
RCV000434308
RCV000429015
RCV000435664
RCV000444463
RCV000418017
RCV000423061
RCV000424499
RCV000429222
RCV000439625
RCV000574439
RCV000704159
RCV003152698
RCV002268012
RCV003483596
dbSNP Id:
rs138729528
ExAC:
17:7578407 G / A
gnomAD v2:
17-7578407-G-A
gnomAD v3:
17-7675089-G-A
gnomAD v4:
17-7675089-G-A
ERepo:
CA002442/MONDO:0018875/009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7675089G>A , CM000679.2:g.7675089G>A | GRCh38 |
| NC_000017.10:g.7578407G>A , CM000679.1:g.7578407G>A | GRCh37 |
| NC_000017.9:g.7519132G>A | NCBI36 |
| NG_017013.2:g.17462C>T , LRG_321:g.17462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.523C>T | ENSP00000426252.2:p.Arg175Cys | |
| ENST00000508793.6:c.523C>T | ENSP00000424104.2:p.Arg175Cys | |
| ENST00000509690.6:c.127C>T | ENSP00000425104.2:p.Arg43Cys | |
| ENST00000514944.6:c.244C>T | ENSP00000423862.2:p.Arg82Cys | |
| ENST00000604348.6:c.502C>T | ENSP00000473895.2:p.Arg168Cys | |
| ENST00000269305.9:c.523C>T MANE Select | ENSP00000269305.4:p.Arg175Cys | |
| ENST00000269305.8:c.523C>T | ENSP00000269305.4:p.Arg175Cys | |
| ENST00000359597.8:c.523C>T | ENSP00000352610.4:p.Arg175Cys | |
| ENST00000413465.6:c.523C>T | ENSP00000410739.2:p.Arg175Cys | |
| ENST00000420246.6:c.523C>T | ENSP00000391127.2:p.Arg175Cys | |
| ENST00000445888.6:c.523C>T | ENSP00000391478.2:p.Arg175Cys | |
| ENST00000455263.6:c.523C>T | ENSP00000398846.2:p.Arg175Cys | |
| ENST00000504290.5:c.127C>T | ENSP00000484409.1:p.Arg43Cys | |
| ENST00000504937.5:c.127C>T | ENSP00000481179.1:p.Arg43Cys | |
| ENST00000505014.5:n.779C>T | ||
| ENST00000509690.5:c.127C>T | ENSP00000425104.1:p.Arg43Cys | |
| ENST00000510385.5:c.127C>T | ENSP00000478499.1:p.Arg43Cys | |
| ENST00000514944.5:c.244C>T | ENSP00000423862.1:p.Arg82Cys | |
| ENST00000574684.1:n.31C>T | ||
| ENST00000610292.4:c.406C>T | ENSP00000478219.1:p.Arg136Cys | |
| ENST00000610538.4:c.406C>T | ENSP00000480868.1:p.Arg136Cys | |
| ENST00000610623.4:c.46C>T | ENSP00000477531.1:p.Arg16Cys | |
| ENST00000615910.4:c.490C>T | ENSP00000482903.1:p.Arg164Cys | |
| ENST00000617185.4:c.523C>T | ENSP00000482258.1:p.Arg175Cys | |
| ENST00000618944.4:c.46C>T | ENSP00000481401.1:p.Arg16Cys | |
| ENST00000619186.4:c.46C>T | ENSP00000484375.1:p.Arg16Cys | |
| ENST00000619485.4:c.406C>T | ENSP00000482537.1:p.Arg136Cys | |
| ENST00000620739.4:c.406C>T | ENSP00000481638.1:p.Arg136Cys | |
| ENST00000622645.4:c.406C>T | ENSP00000482222.1:p.Arg136Cys | |
| ENST00000635293.1:c.406C>T | ENSP00000488924.1:p.Arg136Cys | |
| NM_000546.5:c.523C>T , LRG_321t1:c.523C>T | NP_000537.3:p.Arg175Cys | |
| NM_001126112.2:c.523C>T , LRG_321t2:c.523C>T | NP_001119584.1:p.Arg175Cys | |
| NM_001126113.2:c.523C>T , LRG_321t4:c.523C>T | NP_001119585.1:p.Arg175Cys | |
| NM_001126114.2:c.523C>T , LRG_321t3:c.523C>T | NP_001119586.1:p.Arg175Cys | |
| NM_001126115.1:c.127C>T , LRG_321t5:c.127C>T | NP_001119587.1:p.Arg43Cys | |
| NM_001126116.1:c.127C>T , LRG_321t6:c.127C>T | NP_001119588.1:p.Arg43Cys | |
| NM_001126117.1:c.127C>T , LRG_321t7:c.127C>T | NP_001119589.1:p.Arg43Cys | |
| NM_001126118.1:c.406C>T , LRG_321t8:c.406C>T | NP_001119590.1:p.Arg136Cys | |
| NM_001276695.1:c.406C>T | NP_001263624.1:p.Arg136Cys | |
| NM_001276696.1:c.406C>T | NP_001263625.1:p.Arg136Cys | |
| NM_001276697.1:c.46C>T | NP_001263626.1:p.Arg16Cys | |
| NM_001276698.1:c.46C>T | NP_001263627.1:p.Arg16Cys | |
| NM_001276699.1:c.46C>T | NP_001263628.1:p.Arg16Cys | |
| NM_001276760.1:c.406C>T | NP_001263689.1:p.Arg136Cys | |
| NM_001276761.1:c.406C>T | NP_001263690.1:p.Arg136Cys | |
| NM_001276695.2:c.406C>T | NP_001263624.1:p.Arg136Cys | |
| NM_001276696.2:c.406C>T | NP_001263625.1:p.Arg136Cys | |
| NM_001276697.2:c.46C>T | NP_001263626.1:p.Arg16Cys | |
| NM_001276698.2:c.46C>T | NP_001263627.1:p.Arg16Cys | |
| NM_001276699.2:c.46C>T | NP_001263628.1:p.Arg16Cys | |
| NM_001276760.2:c.406C>T | NP_001263689.1:p.Arg136Cys | |
| NM_001276761.2:c.406C>T | NP_001263690.1:p.Arg136Cys | |
| NM_000546.6:c.523C>T MANE Select | NP_000537.3:p.Arg175Cys | |
| NM_001126112.3:c.523C>T | NP_001119584.1:p.Arg175Cys | |
| NM_001126113.3:c.523C>T | NP_001119585.1:p.Arg175Cys | |
| NM_001126114.3:c.523C>T | NP_001119586.1:p.Arg175Cys | |
| NM_001126115.2:c.127C>T | NP_001119587.1:p.Arg43Cys | |
| NM_001126116.2:c.127C>T | NP_001119588.1:p.Arg43Cys | |
| NM_001126117.2:c.127C>T | NP_001119589.1:p.Arg43Cys | |
| NM_001126118.2:c.406C>T | NP_001119590.1:p.Arg136Cys | |
| NM_001276695.3:c.406C>T | NP_001263624.1:p.Arg136Cys | |
| NM_001276696.3:c.406C>T | NP_001263625.1:p.Arg136Cys | |
| NM_001276697.3:c.46C>T | NP_001263626.1:p.Arg16Cys | |
| NM_001276698.3:c.46C>T | NP_001263627.1:p.Arg16Cys | |
| NM_001276699.3:c.46C>T | NP_001263628.1:p.Arg16Cys | |
| NM_001276760.3:c.406C>T | NP_001263689.1:p.Arg136Cys | |
| NM_001276761.3:c.406C>T | NP_001263690.1:p.Arg136Cys |