Linked Data
dbSNP Id:
rs771732575
ExAC:
17:61914807 C / T
gnomAD v2:
17-61914807-C-T
gnomAD v4:
17-63837447-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63837447C>T , CM000679.2:g.63837447C>T | GRCh38 |
| NC_000017.10:g.61914807C>T , CM000679.1:g.61914807C>T | GRCh37 |
| NC_000017.9:g.59268539C>T | NCBI36 |
| NG_053004.1:g.10545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697953.1:n.283G>A | ||
| ENST00000698015.1:n.29G>A | ||
| ENST00000698016.1:c.254G>A | ENSP00000513502.1:p.Arg85His | |
| ENST00000698021.1:c.58G>A | ||
| ENST00000698022.1:c.212G>A | ENSP00000513504.1:p.Arg71His | |
| ENST00000698027.1:c.254G>A | ENSP00000513505.1:p.Arg85His | |
| ENST00000448276.7:c.395G>A MANE Select | ENSP00000392617.2:p.Arg132His | |
| ENST00000225742.13:c.170G>A | ENSP00000225742.9:p.Arg57His | |
| ENST00000323347.14:c.251G>A | ENSP00000318451.10:p.Arg84His | |
| ENST00000448276.6:c.395G>A | ENSP00000392617.2:p.Arg132His | |
| ENST00000577686.1:n.53-210G>A | ||
| ENST00000580054.1:c.179G>A | ENSP00000463793.1:p.Arg60His | |
| ENST00000584400.5:c.217-210G>A | ENSP00000464503.1:n.217-210G>A | |
| ENST00000613943.4:c.284G>A | ENSP00000483605.1:p.Arg95His | |
| NM_001098426.1:c.395G>A | NP_001091896.1:p.Arg132His | |
| XM_005257604.2:c.170G>A | XP_005257661.2:p.Arg57His | |
| NM_001330439.1:c.170G>A | NP_001317368.1:p.Arg57His | |
| NM_001330440.1:c.251G>A | NP_001317369.1:p.Arg84His | |
| NM_001098426.2:c.395G>A MANE Select | NP_001091896.1:p.Arg132His | |
| NM_001330440.2:c.251G>A | NP_001317369.1:p.Arg84His |