Linked Data
ClinVar Variation Id:
1648460
ClinVar RCV Id:
RCV002141208
dbSNP Id:
rs782123095
ExAC:
X:53432312 C / T
gnomAD v2:
X-53432312-C-T
gnomAD v3:
X-53405380-C-T
gnomAD v4:
X-53405380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405380C>T , CM000685.2:g.53405380C>T | GRCh38 |
| NC_000023.10:g.53432312C>T , CM000685.1:g.53432312C>T | GRCh37 |
| NC_000023.9:g.53449037C>T | NCBI36 |
| NG_006988.2:g.22291G>A , LRG_773:g.22291G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1923G>A MANE Select | ENSP00000323421.3:p.Leu641= | |
| ENST00000674590.1:c.1155G>A | ENSP00000502626.1:p.Leu385= | |
| ENST00000675065.1:n.1275G>A | ||
| ENST00000675504.1:c.1857G>A | ENSP00000502524.1:p.Leu619= | |
| ENST00000322213.8:c.1923G>A | ENSP00000323421.3:p.Leu641= | |
| ENST00000375340.10:c.1857G>A | ENSP00000364489.7:p.Leu619= | |
| NM_001281463.1:c.1857G>A , LRG_773t1:c.1857G>A | NP_001268392.1:p.Leu619= | |
| NM_006306.3:c.1923G>A , LRG_773t2:c.1923G>A | NP_006297.2:p.Leu641= | |
| NM_006306.4:c.1923G>A MANE Select | NP_006297.2:p.Leu641= |