Linked Data
ClinVar Variation Id:
1698963
ClinVar RCV Id:
RCV002272820
dbSNP Id:
rs1057524798
gnomAD v4:
X-53380670-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380670T>G , CM000685.2:g.53380670T>G | GRCh38 |
| NC_000023.10:g.53407591T>G , CM000685.1:g.53407591T>G | GRCh37 |
| NC_000023.9:g.53424316T>G | NCBI36 |
| NG_006988.2:g.47001A>C , LRG_773:g.47001A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322213.9:c.3568A>C MANE Select | ENSP00000323421.3:p.Lys1190Gln | |
| ENST00000674590.1:c.2800A>C | ENSP00000502626.1:p.Lys934Gln | |
| ENST00000675504.1:c.3502A>C | ENSP00000502524.1:p.Lys1168Gln | |
| ENST00000322213.8:c.3568A>C | ENSP00000323421.3:p.Lys1190Gln | |
| ENST00000375340.10:c.3502A>C | ENSP00000364489.7:p.Lys1168Gln | |
| ENST00000470241.2:c.788A>C | ||
| NM_001281463.1:c.3502A>C , LRG_773t1:c.3502A>C | NP_001268392.1:p.Lys1168Gln | |
| NM_006306.3:c.3568A>C , LRG_773t2:c.3568A>C | NP_006297.2:p.Lys1190Gln | |
| NM_006306.4:c.3568A>C MANE Select | NP_006297.2:p.Lys1190Gln |