Linked Data
ClinVar Variation Id:
3220424
ClinVar RCV Id:
RCV004513334
dbSNP Id:
rs376629780
ExAC:
X:107328233 A / T
gnomAD v2:
X-107328233-A-T
gnomAD v3:
X-108085003-A-T
gnomAD v4:
X-108085003-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108085003A>T , CM000685.2:g.108085003A>T | GRCh38 |
| NC_000023.10:g.107328233A>T , CM000685.1:g.107328233A>T | GRCh37 |
| NC_000023.9:g.107214889A>T | NCBI36 |
| NG_012521.1:g.11616T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.652T>A MANE Select | ENSP00000217958.3:p.Leu218Ile | |
| ENST00000217958.7:c.652T>A | ENSP00000217958.3:p.Leu218Ile | |
| ENST00000340200.5:c.553T>A | ENSP00000345963.5:p.Leu185Ile | |
| ENST00000361815.9:c.*117T>A | ENSP00000354906.5:n.*117T>A | |
| ENST00000372295.5:c.529T>A | ENSP00000361369.1:p.Leu177Ile | |
| ENST00000372296.5:c.*117T>A | ENSP00000361370.1:n.*117T>A | |
| NM_002814.3:c.652T>A | NP_002805.1:p.Leu218Ile | |
| NM_170750.2:c.*117T>A | NP_736606.1:n.*117T>A | |
| NM_002814.4:c.652T>A MANE Select | NP_002805.1:p.Leu218Ile | |
| NM_170750.3:c.*117T>A | NP_736606.1:n.*117T>A |