Linked Data
ClinVar Variation Id:
17606
ClinVar RCV Id:
RCV000019172
dbSNP Id:
rs121909578
ExAC:
8:86240835 C / T
gnomAD v2:
8-86240835-C-T
gnomAD v3:
8-85328606-C-T
gnomAD v4:
8-85328606-C-T
PubMed:
PMID:406674
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85328606C>T , CM000670.2:g.85328606C>T | GRCh38 |
| NC_000008.10:g.86240835C>T , CM000670.1:g.86240835C>T | GRCh37 |
| NC_000008.9:g.86428087C>T | NCBI36 |
| NG_016221.1:g.54508G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000523022.6:c.740G>A MANE Select | ENSP00000429798.1:p.Arg247His | |
| ENST00000431316.3:c.740G>A | ENSP00000392338.1:p.Arg247His | |
| ENST00000517618.5:c.740G>A | ENSP00000430861.1:p.Arg247His | |
| ENST00000519991.5:c.401G>A | ENSP00000430543.1:p.Arg134His | |
| ENST00000521679.5:c.489G>A | ||
| ENST00000522389.5:c.338G>A | ENSP00000427773.1:p.Arg113His | |
| ENST00000523022.5:c.740G>A | ENSP00000429798.1:p.Arg247His | |
| ENST00000523953.5:c.740G>A | ENSP00000430656.1:p.Arg247His | |
| ENST00000524324.5:c.542G>A | ENSP00000428923.1:p.Arg181His | |
| ENST00000542576.5:c.740G>A | ENSP00000443517.1:p.Arg247His | |
| ENST00000626824.1:c.338G>A | ENSP00000486171.1:p.Arg113His | |
| NM_001128829.3:c.740G>A | NP_001122301.1:p.Arg247His | |
| NM_001128830.3:c.740G>A | NP_001122302.1:p.Arg247His | |
| NM_001128831.3:c.740G>A | NP_001122303.1:p.Arg247His | |
| NM_001164830.1:c.740G>A | NP_001158302.1:p.Arg247His | |
| NM_001291967.1:c.542G>A | NP_001278896.1:p.Arg181His | |
| NM_001291968.1:c.401G>A | NP_001278897.1:p.Arg134His | |
| NM_001738.4:c.740G>A | NP_001729.1:p.Arg247His | |
| XM_011517584.1:c.740G>A | XP_011515886.1:p.Arg247His | |
| NM_001128829.4:c.740G>A | NP_001122301.1:p.Arg247His | |
| NM_001128830.4:c.740G>A | NP_001122302.1:p.Arg247His | |
| NM_001128831.4:c.740G>A MANE Select | NP_001122303.1:p.Arg247His | |
| NM_001164830.2:c.740G>A | NP_001158302.1:p.Arg247His | |
| NM_001291967.2:c.542G>A | NP_001278896.1:p.Arg181His | |
| NM_001291968.2:c.401G>A | NP_001278897.1:p.Arg134His | |
| NM_001738.5:c.740G>A | NP_001729.1:p.Arg247His |