Linked Data
ClinVar Variation Id:
402222
dbSNP Id:
rs745597535
ExAC:
16:49764693 C / T
gnomAD v2:
16-49764693-C-T
gnomAD v3:
16-49730782-C-T
gnomAD v4:
16-49730782-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49730782C>T , CM000678.2:g.49730782C>T | GRCh38 |
| NC_000016.9:g.49764693C>T , CM000678.1:g.49764693C>T | GRCh37 |
| NC_000016.8:g.48322194C>T | NCBI36 |
| NG_032972.1:g.132138G>A | |
| NG_032972.2:g.132138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563137.7:c.290G>A MANE Select | ENSP00000455588.3:p.Arg97His | |
| ENST00000262383.6:c.266G>A | ENSP00000262383.2:p.Arg89His | |
| ENST00000561648.5:c.266G>A | ENSP00000455426.1:p.Arg89His | |
| ENST00000562520.1:c.86G>A | ENSP00000457664.1:p.Arg29His | |
| ENST00000562871.5:c.86G>A | ENSP00000457928.1:p.Arg29His | |
| ENST00000563137.6:c.86G>A | ENSP00000455588.2:p.Arg29His | |
| ENST00000568094.2:c.250G>A | ||
| NM_001271620.1:c.86G>A | NP_001258549.1:p.Arg29His | |
| NM_015069.3:c.266G>A | NP_055884.2:p.Arg89His | |
| XM_005255856.3:c.86G>A | XP_005255913.1:p.Arg29His | |
| XM_006721171.2:c.311G>A | XP_006721234.1:p.Arg104His | |
| XM_011522962.1:c.359G>A | XP_011521264.1:p.Arg120His | |
| NM_001271620.2:c.86G>A | NP_001258549.1:p.Arg29His | |
| NM_015069.4:c.266G>A | NP_055884.2:p.Arg89His | |
| XM_005255856.4:c.86G>A | XP_005255913.1:p.Arg29His | |
| XM_006721171.4:c.311G>A | XP_006721234.1:p.Arg104His | |
| XM_017023076.2:c.290G>A | XP_016878565.1:p.Arg97His | |
| XM_017023077.1:c.86G>A | XP_016878566.1:p.Arg29His | |
| XM_017023078.1:c.86G>A | XP_016878567.1:p.Arg29His | |
| NM_001379286.1:c.290G>A MANE Select | NP_001366215.1:p.Arg97His | |
| NM_015069.5:c.266G>A | NP_055884.2:p.Arg89His |