Linked Data
ClinVar Variation Id:
164996
ClinVar RCV Id:
RCV000151682
RCV000283249
RCV000393649
RCV000393656
RCV000720978
RCV000757690
RCV001084842
dbSNP Id:
rs61735617
ExAC:
X:106885646 A / G
gnomAD v2:
X-106885646-A-G
gnomAD v3:
X-107642416-A-G
gnomAD v4:
X-107642416-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107642416A>G , CM000685.2:g.107642416A>G | GRCh38 |
| NC_000023.10:g.106885646A>G , CM000685.1:g.106885646A>G | GRCh37 |
| NC_000023.9:g.106772302A>G | NCBI36 |
| NG_008407.1:g.18993A>G , LRG_264:g.18993A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.357A>G | ENSP00000361495.2:p.Leu119= | |
| ENST00000372435.10:c.456A>G MANE Select | ENSP00000361512.4:p.Leu152= | |
| ENST00000643795.2:c.456A>G | ENSP00000496286.1:p.Leu152= | |
| ENST00000644642.1:c.123-2761A>G | ENSP00000495493.1:n.123-2761A>G | |
| ENST00000645903.1:n.550A>G | ||
| ENST00000674525.1:n.490+1416A>G | ||
| ENST00000674826.1:c.*149A>G | ENSP00000502278.1:n.*149A>G | |
| ENST00000675046.1:c.185-2761A>G | ||
| ENST00000675082.1:c.51A>G | ENSP00000502347.1:p.Leu17= | |
| ENST00000675124.1:c.51A>G | ENSP00000502439.1:p.Leu17= | |
| ENST00000675630.1:c.51A>G | ENSP00000502050.1:p.Leu17= | |
| ENST00000675720.1:c.332A>G | ||
| ENST00000675921.1:c.51A>G | ENSP00000502707.1:p.Leu17= | |
| ENST00000676092.1:c.358+1463A>G | ENSP00000502780.1:n.358+1463A>G | |
| ENST00000372418.2:c.156A>G | ENSP00000361495.1:p.Leu52= | |
| ENST00000372428.8:c.-82-2761A>G | ENSP00000361505.5:n.-82-2761A>G | |
| ENST00000372435.8:c.456A>G | ENSP00000361512.4:p.Leu152= | |
| NM_001204402.1:c.-82-2761A>G | NP_001191331.1:n.-82-2761A>G | |
| NM_002764.3:c.456A>G , LRG_264t1:c.456A>G | NP_002755.1:p.Leu152= | |
| NM_002764.4:c.456A>G MANE Select | NP_002755.1:p.Leu152= | |
| NM_001204402.2:c.-82-2761A>G | NP_001191331.1:n.-82-2761A>G |