Linked Data
ClinVar Variation Id:
363294
ClinVar RCV Id:
RCV000310533
dbSNP Id:
rs886062993
gnomAD v4:
8-54627752-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54627752G>T , CM000670.2:g.54627752G>T | GRCh38 |
| NC_000008.10:g.55540312G>T , CM000670.1:g.55540312G>T | GRCh37 |
| NC_000008.9:g.55702865G>T | NCBI36 |
| NG_009840.1:g.16686G>T | |
| NG_009840.2:g.16686G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.3870G>T MANE Select | ENSP00000220676.1:p.Gln1290His | |
| ENST00000636932.1:c.787+5464G>T | ENSP00000489857.1:n.787+5464G>T | |
| ENST00000637698.1:c.787+5464G>T | ENSP00000490104.1:n.787+5464G>T | |
| ENST00000220676.1:c.3870G>T | ENSP00000220676.1:p.Gln1290His | |
| NM_006269.1:c.3870G>T | NP_006260.1:p.Gln1290His | |
| XM_017013721.1:c.3891G>T | XP_016869210.1:p.Gln1297His | |
| XM_017013722.1:c.3870G>T | XP_016869211.1:p.Gln1290His | |
| NM_001375654.1:c.787+5464G>T | NP_001362583.1:n.787+5464G>T | |
| NM_006269.2:c.3870G>T MANE Select | NP_006260.1:p.Gln1290His |