Linked Data
ClinVar Variation Id:
3111673
ClinVar RCV Id:
RCV004398533
dbSNP Id:
rs781097959
ExAC:
X:78616843 C / T
gnomAD v2:
X-78616843-C-T
gnomAD v4:
X-79361346-C-T
COSMIC:
COSM4693524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.79361346C>T , CM000685.2:g.79361346C>T | GRCh38 |
| NC_000023.10:g.78616843C>T , CM000685.1:g.78616843C>T | GRCh37 |
| NC_000023.9:g.78503499C>T | NCBI36 |
| NG_016412.1:g.11207G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373298.7:c.686G>A MANE Select | ENSP00000362395.2:p.Arg229His | |
| ENST00000373298.6:c.686G>A | ENSP00000362395.2:p.Arg229His | |
| ENST00000434584.2:c.554G>A | ENSP00000415533.2:p.Arg185His | |
| ENST00000469541.5:n.646G>A | ||
| NM_001171581.1:c.554G>A | NP_001165052.1:p.Arg185His | |
| NM_004867.4:c.686G>A | NP_004858.1:p.Arg229His | |
| NM_004867.5:c.686G>A MANE Select | NP_004858.1:p.Arg229His | |
| NM_001171581.2:c.554G>A | NP_001165052.1:p.Arg185His |