Linked Data
ClinVar Variation Id:
46577
ClinVar RCV Id:
RCV000039847
RCV000172723
RCV001081037
RCV001129649
RCV001129651
RCV001129648
RCV001129650
RCV001134674
RCV002381318
dbSNP Id:
rs148169214
ExAC:
2:179628930 C / T
gnomAD v2:
2-179628930-C-T
gnomAD v3:
2-178764203-C-T
gnomAD v4:
2-178764203-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178764203C>T , CM000664.2:g.178764203C>T | GRCh38 |
| NC_000002.11:g.179628930C>T , CM000664.1:g.179628930C>T | GRCh37 |
| NC_000002.10:g.179337175C>T | NCBI36 |
| NG_011618.3:g.71600G>A , LRG_391:g.71600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.10088G>A | ENSP00000343764.6:p.Arg3363His | |
| ENST00000342175.11:c.9950G>A | ENSP00000340554.6:p.Arg3317His | |
| ENST00000359218.10:c.9950G>A | ENSP00000352154.5:p.Arg3317His | |
| ENST00000360870.10:c.10088G>A MANE Plus Clinical | ENSP00000354117.4:p.Arg3363His | |
| ENST00000342175.10:c.9950G>A | ENSP00000340554.6:p.Arg3317His | |
| ENST00000342992.10:c.10088G>A | ENSP00000343764.6:p.Arg3363His | |
| ENST00000359218.9:c.9950G>A | ENSP00000352154.5:p.Arg3317His | |
| ENST00000360870.9:c.10088G>A | ENSP00000354117.4:p.Arg3363His | |
| ENST00000460472.6:c.9950G>A | ENSP00000434586.1:p.Arg3317His | |
| ENST00000589042.5:c.10088G>A MANE Select | ENSP00000467141.1:p.Arg3363His | |
| ENST00000591111.5:c.10088G>A | ENSP00000465570.1:p.Arg3363His | |
| ENST00000615779.4:c.10088G>A | ENSP00000483597.1:p.Arg3363His | |
| ENST00000634225.1:c.684G>A | ||
| NM_001256850.1:c.10088G>A | NP_001243779.1:p.Arg3363His | |
| NM_001267550.2:c.10088G>A MANE Select | NP_001254479.2:p.Arg3363His | |
| NM_003319.4:c.9950G>A | NP_003310.4:p.Arg3317His | |
| NM_133378.4:c.10088G>A | NP_596869.4:p.Arg3363His | |
| NM_133379.4:c.10088G>A , LRG_391t2:c.10088G>A | NP_596870.2:p.Arg3363His | |
| NM_133432.3:c.9950G>A | NP_597676.3:p.Arg3317His | |
| NM_133437.4:c.9950G>A | NP_597681.4:p.Arg3317His | |
| XM_011511729.1:c.10136G>A | XP_011510031.1:p.Arg3379His | |
| XM_011511730.1:c.10136G>A | XP_011510032.1:p.Arg3379His | |
| XM_011511731.1:c.9995G>A | XP_011510033.1:p.Arg3332His | |
| XM_011511732.1:c.10133G>A | XP_011510034.1:p.Arg3378His | |
| XM_017004819.1:c.10091G>A | XP_016860308.1:p.Arg3364His | |
| XM_017004820.1:c.10091G>A | XP_016860309.1:p.Arg3364His | |
| XM_017004821.1:c.10088G>A | XP_016860310.1:p.Arg3363His | |
| XM_017004822.1:c.10091G>A | XP_016860311.1:p.Arg3364His | |
| XM_017004823.1:c.10091G>A | XP_016860312.1:p.Arg3364His | |
| XM_024453094.1:c.10091G>A | XP_024308862.1:p.Arg3364His | |
| XM_024453095.1:c.10091G>A | XP_024308863.1:p.Arg3364His | |
| XM_024453096.1:c.10091G>A | XP_024308864.1:p.Arg3364His | |
| XM_024453097.1:c.10091G>A | XP_024308865.1:p.Arg3364His | |
| XM_024453098.1:c.10091G>A | XP_024308866.1:p.Arg3364His | |
| XM_024453099.1:c.10091G>A | XP_024308867.1:p.Arg3364His | |
| NM_133379.5:c.10088G>A MANE Plus Clinical | NP_596870.2:p.Arg3363His |