Linked Data
ClinVar Variation Id:
1985112
ClinVar RCV Id:
RCV002800455
dbSNP Id:
rs750416597
gnomAD v2:
1-180235586-G-A
gnomAD v3:
1-180266451-G-A
gnomAD v4:
1-180266451-G-A
COSMIC:
COSM2096141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180266451G>A , CM000663.2:g.180266451G>A | GRCh38 |
| NC_000001.10:g.180235586G>A , CM000663.1:g.180235586G>A | GRCh37 |
| NC_000001.9:g.178502209G>A | NCBI36 |
| NG_008081.1:g.41145G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263726.4:c.308G>A MANE Select | ENSP00000263726.2:p.Arg103His | |
| ENST00000263726.3:c.308G>A | ENSP00000263726.2:p.Arg103His | |
| ENST00000561113.1:c.245G>A | ||
| NM_033343.3:c.308G>A | NP_203129.1:p.Arg103His | |
| XM_011510105.1:c.125G>A | XP_011508407.1:p.Arg42His | |
| XM_011510106.1:c.125G>A | XP_011508408.1:p.Arg42His | |
| XM_011510107.1:c.83G>A | XP_011508409.1:p.Arg28His | |
| XM_011510108.1:c.83G>A | XP_011508410.1:p.Arg28His | |
| XM_011510105.2:c.125G>A | XP_011508407.1:p.Arg42His | |
| XM_011510106.3:c.125G>A | XP_011508408.1:p.Arg42His | |
| XM_011510108.2:c.83G>A | XP_011508410.1:p.Arg28His | |
| XM_017002755.1:c.83G>A | XP_016858244.1:p.Arg28His | |
| NM_033343.4:c.308G>A MANE Select | NP_203129.1:p.Arg103His |