Linked Data
ClinVar Variation Id:
373969
dbSNP Id:
rs781817923
ExAC:
X:53410167 T / C
gnomAD v2:
X-53410167-T-C
gnomAD v4:
X-53383246-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53383246T>C , CM000685.2:g.53383246T>C | GRCh38 |
| NC_000023.10:g.53410167T>C , CM000685.1:g.53410167T>C | GRCh37 |
| NC_000023.9:g.53426892T>C | NCBI36 |
| NG_006988.2:g.44425A>G , LRG_773:g.44425A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322213.9:c.2981A>G MANE Select | ENSP00000323421.3:p.Gln994Arg | |
| ENST00000674590.1:c.2213A>G | ENSP00000502626.1:p.Gln738Arg | |
| ENST00000675504.1:c.2915A>G | ENSP00000502524.1:p.Gln972Arg | |
| ENST00000322213.8:c.2981A>G | ENSP00000323421.3:p.Gln994Arg | |
| ENST00000375340.10:c.2915A>G | ENSP00000364489.7:p.Gln972Arg | |
| ENST00000470241.2:c.271A>G | ||
| NM_001281463.1:c.2915A>G , LRG_773t1:c.2915A>G | NP_001268392.1:p.Gln972Arg | |
| NM_006306.3:c.2981A>G , LRG_773t2:c.2981A>G | NP_006297.2:p.Gln994Arg | |
| NM_006306.4:c.2981A>G MANE Select | NP_006297.2:p.Gln994Arg |