Linked Data
ClinVar Variation Id:
447314
dbSNP Id:
rs368661339
ExAC:
X:153609329 G / A
gnomAD v2:
X-153609329-G-A
gnomAD v3:
X-154380969-G-A
gnomAD v4:
X-154380969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380969G>A , CM000685.2:g.154380969G>A | GRCh38 |
| NC_000023.10:g.153609329G>A , CM000685.1:g.153609329G>A | GRCh37 |
| NC_000023.9:g.153262523G>A | NCBI36 |
| NG_008677.1:g.11534G>A , LRG_745:g.11534G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.537G>A | ENSP00000507245.1:p.Leu179= | |
| ENST00000682478.1:n.727G>A | ||
| ENST00000683576.1:n.727G>A | ||
| ENST00000683627.1:c.537G>A | ENSP00000507533.1:p.Leu179= | |
| ENST00000684082.1:c.494G>A | ENSP00000508266.1:n.494G>A | |
| ENST00000684633.1:n.509G>A | ||
| ENST00000684678.1:c.533G>A | ENSP00000507059.1:n.533G>A | |
| ENST00000369842.9:c.537G>A MANE Select | ENSP00000358857.4:p.Leu179= | |
| ENST00000369835.3:c.432G>A | ENSP00000358850.3:p.Leu144= | |
| ENST00000369842.8:c.537G>A | ENSP00000358857.4:p.Leu179= | |
| ENST00000428228.5:c.*442G>A | ENSP00000401081.1:n.*442G>A | |
| ENST00000471965.1:n.326G>A | ||
| ENST00000486738.5:n.974G>A | ||
| ENST00000492448.1:n.520G>A | ||
| NM_000117.2:c.537G>A , LRG_745t1:c.537G>A | NP_000108.1:p.Leu179= | |
| XM_024452349.1:c.543G>A | XP_024308117.1:p.Leu181= | |
| NM_000117.3:c.537G>A MANE Select | NP_000108.1:p.Leu179= |