Linked Data
ClinVar Variation Id:
12379
ClinVar RCV Id:
RCV000013178
RCV000128923
RCV000197240
RCV000413754
RCV000576817
RCV000481814
RCV000989700
RCV001375632
RCV002307364
RCV002496338
RCV003162248
dbSNP Id:
rs121912664
ExAC:
17:7574017 C / T
gnomAD v2:
17-7574017-C-T
gnomAD v3:
17-7670699-C-T
gnomAD v4:
17-7670699-C-T
PubMed:
PMID:10864200
PMID:11481490
PMID:11600572
PMID:11753428
PMID:12826609
PMID:15121773
PMID:15741269
PMID:16033918
PMID:16494995
PMID:19717094
PMID:23469205
PMID:24784157
PMID:24884479
PMID:25736369
PMID:25945745
PMID:26452166
PMID:26572807
PMID:26823150
PMID:27081505
PMID:27223487
PMID:27553368
PMID:27663983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7670699C>T , CM000679.2:g.7670699C>T | GRCh38 |
| NC_000017.10:g.7574017C>T , CM000679.1:g.7574017C>T | GRCh37 |
| NC_000017.9:g.7514742C>T | NCBI36 |
| NG_017013.2:g.21852G>A , LRG_321:g.21852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.1010G>A | ENSP00000426252.2:p.Arg337His | |
| ENST00000508793.6:c.1010G>A | ENSP00000424104.2:p.Arg337His | |
| ENST00000509690.6:c.614G>A | ENSP00000425104.2:p.Arg205His | |
| ENST00000514944.6:c.731G>A | ENSP00000423862.2:p.Arg244His | |
| ENST00000604348.6:c.989G>A | ENSP00000473895.2:p.Arg330His | |
| ENST00000269305.9:c.1010G>A MANE Select | ENSP00000269305.4:p.Arg337His | |
| ENST00000269305.8:c.1010G>A | ENSP00000269305.4:p.Arg337His | |
| ENST00000359597.8:c.993+2836G>A | ENSP00000352610.4:n.993+2836G>A | |
| ENST00000413465.6:c.782+3482G>A | ENSP00000410739.2:n.782+3482G>A | |
| ENST00000420246.6:c.*117G>A | ENSP00000391127.2:n.*117G>A | |
| ENST00000445888.6:c.1010G>A | ENSP00000391478.2:p.Arg337His | |
| ENST00000455263.6:c.*29G>A | ENSP00000398846.2:n.*29G>A | |
| ENST00000504290.5:c.*29G>A | ENSP00000484409.1:n.*29G>A | |
| ENST00000504937.5:c.614G>A | ENSP00000481179.1:p.Arg205His | |
| ENST00000510385.5:c.*117G>A | ENSP00000478499.1:n.*117G>A | |
| ENST00000576024.1:c.54-1009G>A | ||
| ENST00000610292.4:c.893G>A | ENSP00000478219.1:p.Arg298His | |
| ENST00000610538.4:c.*29G>A | ENSP00000480868.1:n.*29G>A | |
| ENST00000610623.4:c.*29G>A | ENSP00000477531.1:n.*29G>A | |
| ENST00000615910.4:c.977G>A | ENSP00000482903.1:p.Arg326His | |
| ENST00000617185.4:c.*117G>A | ENSP00000482258.1:n.*117G>A | |
| ENST00000618944.4:c.*117G>A | ENSP00000481401.1:n.*117G>A | |
| ENST00000619186.4:c.533G>A | ENSP00000484375.1:p.Arg178His | |
| ENST00000619485.4:c.893G>A | ENSP00000482537.1:p.Arg298His | |
| ENST00000620739.4:c.893G>A | ENSP00000481638.1:p.Arg298His | |
| ENST00000622645.4:c.*117G>A | ENSP00000482222.1:n.*117G>A | |
| ENST00000635293.1:c.893G>A | ENSP00000488924.1:p.Arg298His | |
| NM_000546.5:c.1010G>A , LRG_321t1:c.1010G>A | NP_000537.3:p.Arg337His | |
| NM_001126112.2:c.1010G>A , LRG_321t2:c.1010G>A | NP_001119584.1:p.Arg337His | |
| NM_001126113.2:c.*29G>A , LRG_321t4:c.*29G>A | NP_001119585.1:n.*29G>A | |
| NM_001126114.2:c.*117G>A , LRG_321t3:c.*117G>A | NP_001119586.1:n.*117G>A | |
| NM_001126115.1:c.614G>A , LRG_321t5:c.614G>A | NP_001119587.1:p.Arg205His | |
| NM_001126116.1:c.*117G>A , LRG_321t6:c.*117G>A | NP_001119588.1:n.*117G>A | |
| NM_001126117.1:c.*29G>A , LRG_321t7:c.*29G>A | NP_001119589.1:n.*29G>A | |
| NM_001126118.1:c.893G>A , LRG_321t8:c.893G>A | NP_001119590.1:p.Arg298His | |
| NM_001276695.1:c.*29G>A | NP_001263624.1:n.*29G>A | |
| NM_001276696.1:c.*117G>A | NP_001263625.1:n.*117G>A | |
| NM_001276697.1:c.533G>A | NP_001263626.1:p.Arg178His | |
| NM_001276698.1:c.*117G>A | NP_001263627.1:n.*117G>A | |
| NM_001276699.1:c.*29G>A | NP_001263628.1:n.*29G>A | |
| NM_001276760.1:c.893G>A | NP_001263689.1:p.Arg298His | |
| NM_001276761.1:c.893G>A | NP_001263690.1:p.Arg298His | |
| NM_001276695.2:c.*29G>A | NP_001263624.1:n.*29G>A | |
| NM_001276696.2:c.*117G>A | NP_001263625.1:n.*117G>A | |
| NM_001276697.2:c.533G>A | NP_001263626.1:p.Arg178His | |
| NM_001276698.2:c.*117G>A | NP_001263627.1:n.*117G>A | |
| NM_001276699.2:c.*29G>A | NP_001263628.1:n.*29G>A | |
| NM_001276760.2:c.893G>A | NP_001263689.1:p.Arg298His | |
| NM_001276761.2:c.893G>A | NP_001263690.1:p.Arg298His | |
| NM_000546.6:c.1010G>A MANE Select | NP_000537.3:p.Arg337His | |
| NM_001126112.3:c.1010G>A | NP_001119584.1:p.Arg337His | |
| NM_001126113.3:c.*29G>A | NP_001119585.1:n.*29G>A | |
| NM_001126114.3:c.*117G>A | NP_001119586.1:n.*117G>A | |
| NM_001126115.2:c.614G>A | NP_001119587.1:p.Arg205His | |
| NM_001126116.2:c.*117G>A | NP_001119588.1:n.*117G>A | |
| NM_001126117.2:c.*29G>A | NP_001119589.1:n.*29G>A | |
| NM_001126118.2:c.893G>A | NP_001119590.1:p.Arg298His | |
| NM_001276695.3:c.*29G>A | NP_001263624.1:n.*29G>A | |
| NM_001276696.3:c.*117G>A | NP_001263625.1:n.*117G>A | |
| NM_001276697.3:c.533G>A | NP_001263626.1:p.Arg178His | |
| NM_001276698.3:c.*117G>A | NP_001263627.1:n.*117G>A | |
| NM_001276699.3:c.*29G>A | NP_001263628.1:n.*29G>A | |
| NM_001276760.3:c.893G>A | NP_001263689.1:p.Arg298His | |
| NM_001276761.3:c.893G>A | NP_001263690.1:p.Arg298His |