Linked Data
ClinVar Variation Id:
1632278
ClinVar RCV Id:
RCV002128279
dbSNP Id:
rs139235307
ExAC:
16:58752137 C / T
gnomAD v2:
16-58752137-C-T
gnomAD v3:
16-58718233-C-T
gnomAD v4:
16-58718233-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58718233C>T , CM000678.2:g.58718233C>T | GRCh38 |
| NC_000016.9:g.58752137C>T , CM000678.1:g.58752137C>T | GRCh37 |
| NC_000016.8:g.57309638C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245206.10:c.665G>A MANE Select | ENSP00000245206.5:p.Arg222His | |
| ENST00000245206.9:c.665G>A | ENSP00000245206.5:p.Arg222His | |
| ENST00000434819.2:c.536G>A | ENSP00000394100.2:p.Arg179His | |
| ENST00000496461.5:n.965G>A | ||
| ENST00000564400.5:n.779G>A | ||
| NM_001286220.1:c.536G>A | NP_001273149.1:p.Arg179His | |
| NM_002080.3:c.665G>A | NP_002071.2:p.Arg222His | |
| NM_002080.4:c.665G>A MANE Select | NP_002071.2:p.Arg222His | |
| NM_001286220.2:c.536G>A | NP_001273149.1:p.Arg179His |