Linked Data
ClinVar Variation Id:
904117
ClinVar RCV Id:
RCV001151840
dbSNP Id:
rs377511395
ExAC:
5:158743778 C / T
gnomAD v2:
5-158743778-C-T
gnomAD v3:
5-159316770-C-T
gnomAD v4:
5-159316770-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316770C>T , CM000667.2:g.159316770C>T | GRCh38 |
| NC_000005.9:g.158743778C>T , CM000667.1:g.158743778C>T | GRCh37 |
| NC_000005.8:g.158676356C>T | NCBI36 |
| NG_009618.1:g.18704G>A , LRG_71:g.18704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.272G>A | ENSP00000512849.1:p.Arg91His | |
| ENST00000696751.1:c.*397G>A | ENSP00000512850.1:n.*397G>A | |
| ENST00000231228.3:c.902G>A MANE Select | ENSP00000231228.2:p.Arg301His | |
| ENST00000231228.2:c.902G>A | ENSP00000231228.2:p.Arg301His | |
| NM_002187.2:c.902G>A , LRG_71t1:c.902G>A | NP_002178.2:p.Arg301His | |
| NM_002187.3:c.902G>A MANE Select | NP_002178.2:p.Arg301His |