Linked Data
ClinVar Variation Id:
100326
dbSNP Id:
rs61750069
gnomAD v2:
12-6128479-A-T
gnomAD v3:
12-6019313-A-T
gnomAD v4:
12-6019313-A-T
ERepo:
CA228533/MONDO:0015630/081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019313A>T , CM000674.2:g.6019313A>T | GRCh38 |
| NC_000012.11:g.6128479A>T , CM000674.1:g.6128479A>T | GRCh37 |
| NC_000012.10:g.5998740A>T | NCBI36 |
| NG_009072.1:g.110358T>A | |
| NG_009072.2:g.110358T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.4105T>A MANE Select | ENSP00000261405.5:p.Phe1369Ile | |
| ENST00000261405.9:c.4105T>A | ENSP00000261405.5:p.Phe1369Ile | |
| ENST00000538635.5:n.421-25379T>A | ||
| NM_000552.3:c.4105T>A | NP_000543.2:p.Phe1369Ile | |
| NM_000552.4:c.4105T>A | NP_000543.2:p.Phe1369Ile | |
| NM_000552.5:c.4105T>A MANE Select | NP_000543.3:p.Phe1369Ile |