Linked Data
ClinVar Variation Id:
1167372
ClinVar RCV Id:
RCV001516506
dbSNP Id:
rs72558189
ExAC:
10:96701991 G / A
gnomAD v2:
10-96701991-G-A
gnomAD v3:
10-94942234-G-A
gnomAD v4:
10-94942234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942234G>A , CM000672.2:g.94942234G>A | GRCh38 |
| NC_000010.10:g.96701991G>A , CM000672.1:g.96701991G>A | GRCh37 |
| NC_000010.9:g.96691981G>A | NCBI36 |
| NG_008385.1:g.8577G>A | |
| NG_008385.2:g.9077G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.374G>A MANE Select | ENSP00000260682.6:p.Arg125His | |
| ENST00000643112.1:c.374G>A | ENSP00000496202.1:p.Arg125His | |
| ENST00000645207.1:n.527G>A | ||
| ENST00000260682.6:c.374G>A | ENSP00000260682.6:p.Arg125His | |
| ENST00000461906.1:n.399G>A | ||
| ENST00000473496.1:n.145G>A | ||
| NM_000771.3:c.374G>A | NP_000762.2:p.Arg125His | |
| NM_000771.4:c.374G>A MANE Select | NP_000762.2:p.Arg125His |