Linked Data
ClinVar Variation Id:
1367036
ClinVar RCV Id:
RCV001962215
dbSNP Id:
rs747905173
ExAC:
1:109807185 A / T
gnomAD v2:
1-109807185-A-T
gnomAD v3:
1-109264563-A-T
gnomAD v4:
1-109264563-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264563A>T , CM000663.2:g.109264563A>T | GRCh38 |
| NC_000001.10:g.109807185A>T , CM000663.1:g.109807185A>T | GRCh37 |
| NC_000001.9:g.109608708A>T | NCBI36 |
| NG_052669.1:g.19859A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5399A>T MANE Select | ENSP00000271332.3:p.Asn1800Ile | |
| ENST00000271332.3:c.5399A>T | ENSP00000271332.3:p.Asn1800Ile | |
| NM_001408.2:c.5399A>T | NP_001399.1:p.Asn1800Ile | |
| XM_005270580.3:c.5399A>T | XP_005270637.1:p.Asn1800Ile | |
| NM_001408.3:c.5399A>T MANE Select | NP_001399.1:p.Asn1800Ile |