Linked Data
ClinVar Variation Id:
12700
dbSNP Id:
rs2069566
ExAC:
8:134030185 G / A
gnomAD v2:
8-134030185-G-A
gnomAD v3:
8-133017940-G-A
gnomAD v4:
8-133017940-G-A
PubMed:
PMID:12915634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133017940G>A , CM000670.2:g.133017940G>A | GRCh38 |
| NC_000008.10:g.134030185G>A , CM000670.1:g.134030185G>A | GRCh37 |
| NC_000008.9:g.134099367G>A | NCBI36 |
| NG_015832.1:g.155981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.6725G>A MANE Select | ENSP00000220616.4:p.Arg2242His | |
| ENST00000220616.8:c.6725G>A | ENSP00000220616.4:p.Arg2242His | |
| ENST00000518108.1:c.168+74G>A | ||
| ENST00000519178.5:c.2091G>A | ||
| ENST00000519543.5:c.1124G>A | ENSP00000430430.1:p.Arg375His | |
| ENST00000522523.5:n.786G>A | ||
| ENST00000523756.5:c.3380G>A | ||
| NM_003235.4:c.6725G>A | NP_003226.4:p.Arg2242His | |
| XM_005251038.3:c.6533G>A | XP_005251095.1:p.Arg2178His | |
| XM_006716622.2:c.6662G>A | XP_006716685.1:p.Arg2221His | |
| XM_005251038.4:c.6533G>A | XP_005251095.1:p.Arg2178His | |
| XM_006716622.3:c.6662G>A | XP_006716685.1:p.Arg2221His | |
| XM_017013793.1:c.6659G>A | XP_016869282.1:p.Arg2220His | |
| XM_017013794.1:c.6725G>A | XP_016869283.1:p.Arg2242His | |
| XM_017013795.1:c.6554G>A | XP_016869284.1:p.Arg2185His | |
| XM_017013796.1:c.6506G>A | XP_016869285.1:p.Arg2169His | |
| XM_017013797.1:c.6464G>A | XP_016869286.1:p.Arg2155His | |
| XM_017013798.1:c.6725G>A | XP_016869287.1:p.Arg2242His | |
| NM_003235.5:c.6725G>A MANE Select | NP_003226.4:p.Arg2242His |