Linked Data
ClinVar Variation Id:
1169461
ClinVar RCV Id:
RCV001520736
dbSNP Id:
rs767379303
ExAC:
X:70329235 T / G
gnomAD v2:
X-70329235-T-G
gnomAD v3:
X-71109385-T-G
gnomAD v4:
X-71109385-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71109385T>G , CM000685.2:g.71109385T>G | GRCh38 |
| NC_000023.10:g.70329235T>G , CM000685.1:g.70329235T>G | GRCh37 |
| NC_000023.9:g.70245960T>G | NCBI36 |
| NG_009088.1:g.7169A>C , LRG_150:g.7169A>C | |
| NG_021141.1:g.2404A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.600A>C | ENSP00000421262.2:p.Gln200His | |
| ENST00000696903.1:n.651A>C | ||
| ENST00000374202.7:c.600A>C MANE Select | ENSP00000363318.3:p.Gln200His | |
| ENST00000642473.1:n.964A>C | ||
| ENST00000644022.1:n.866A>C | ||
| ENST00000644708.1:n.1006A>C | ||
| ENST00000644911.1:n.1006A>C | ||
| ENST00000645266.1:c.600A>C | ENSP00000493734.1:p.Gln200His | |
| ENST00000645518.1:c.600A>C | ENSP00000493986.1:p.Gln200His | |
| ENST00000646106.1:c.600A>C | ENSP00000496437.1:p.Gln200His | |
| ENST00000646505.1:c.600A>C | ENSP00000496673.1:p.Gln200His | |
| ENST00000647492.1:c.600A>C | ENSP00000495340.1:p.Gln200His | |
| ENST00000276110.6:n.1193A>C | ||
| ENST00000374188.7:c.-117A>C | ENSP00000363303.3:n.-117A>C | |
| ENST00000374202.6:c.600A>C | ENSP00000363318.2:p.Gln200His | |
| ENST00000456850.6:c.30A>C | ENSP00000388967.2:p.Gln10His | |
| ENST00000464642.5:c.468A>C | ENSP00000425233.1:p.Gln156His | |
| ENST00000482750.5:c.13A>C | ||
| ENST00000512747.3:n.527A>C | ||
| NM_000206.2:c.600A>C , LRG_150t1:c.600A>C | NP_000197.1:p.Gln200His | |
| NM_000206.3:c.600A>C MANE Select | NP_000197.1:p.Gln200His |