Linked Data
ClinVar Variation Id:
101518
ClinVar RCV Id:
RCV000087751
dbSNP Id:
rs752673677
ExAC:
1:24664534 G / A
gnomAD v2:
1-24664534-G-A
gnomAD v3:
1-24338044-G-A
gnomAD v4:
1-24338044-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.24338044G>A , CM000663.2:g.24338044G>A | GRCh38 |
| NC_000001.10:g.24664534G>A , CM000663.1:g.24664534G>A | GRCh37 |
| NC_000001.9:g.24537121G>A | NCBI36 |
| NG_009308.1:g.23654G>A | |
| NG_009308.2:g.23654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461318.2:c.893G>A | ENSP00000508789.1:p.Arg298His | |
| ENST00000524724.6:c.755G>A | ENSP00000431290.2:p.Arg252His | |
| ENST00000528064.6:c.614G>A | ENSP00000435130.2:p.Arg205His | |
| ENST00000689444.1:c.755G>A | ENSP00000509040.1:p.Arg252His | |
| ENST00000690803.1:c.614G>A | ENSP00000510783.1:p.Arg205His | |
| ENST00000692334.1:c.614G>A | ENSP00000509790.1:p.Arg205His | |
| ENST00000361548.9:c.893G>A MANE Select | ENSP00000354943.5:p.Arg298His | |
| ENST00000236255.4:c.908G>A | ENSP00000236255.4:p.Arg303His | |
| ENST00000350501.9:c.893G>A | ENSP00000288955.5:p.Arg298His | |
| ENST00000356046.6:c.755G>A | ENSP00000348333.2:p.Arg252His | |
| ENST00000361548.8:c.893G>A | ENSP00000354943.4:p.Arg298His | |
| ENST00000528064.5:c.*562G>A | ENSP00000435130.1:n.*562G>A | |
| ENST00000528181.1:n.345G>A | ||
| NM_001195010.1:c.755G>A | NP_001181939.1:p.Arg252His | |
| NM_021180.3:c.908G>A | NP_067003.2:p.Arg303His | |
| NM_198173.2:c.893G>A | NP_937816.1:p.Arg298His | |
| NM_198174.2:c.893G>A | NP_937817.3:p.Arg298His | |
| XM_011541869.1:c.755G>A | XP_011540171.1:p.Arg252His | |
| XM_011541870.1:c.614G>A | XP_011540172.1:p.Arg205His | |
| XM_011541870.2:c.614G>A | XP_011540172.1:p.Arg205His | |
| NM_001195010.2:c.755G>A | NP_001181939.1:p.Arg252His | |
| NM_198173.3:c.893G>A MANE Select | NP_937816.1:p.Arg298His | |
| NM_198174.3:c.893G>A | NP_937817.3:p.Arg298His | |
| NM_021180.4:c.908G>A | NP_067003.2:p.Arg303His |