Linked Data
ClinVar Variation Id:
95152
dbSNP Id:
rs2230488
ExAC:
X:20204461 G / T
gnomAD v2:
X-20204461-G-T
gnomAD v3:
X-20186343-G-T
gnomAD v4:
X-20186343-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.20186343G>T , CM000685.2:g.20186343G>T | GRCh38 |
| NC_000023.10:g.20204461G>T , CM000685.1:g.20204461G>T | GRCh37 |
| NC_000023.9:g.20114382G>T | NCBI36 |
| NG_007488.1:g.85290C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379565.9:c.798C>A MANE Select | ENSP00000368884.3:p.Leu266= | |
| ENST00000457145.6:c.711C>A | ENSP00000407655.2:p.Leu237= | |
| ENST00000642835.1:c.714C>A | ENSP00000494769.1:p.Leu238= | |
| ENST00000643073.1:c.416C>A | ENSP00000495839.1:n.416C>A | |
| ENST00000643085.1:c.714C>A | ENSP00000496271.1:p.Leu238= | |
| ENST00000643337.1:c.714C>A | ENSP00000493487.1:p.Leu238= | |
| ENST00000643402.1:c.714C>A | ENSP00000493862.1:p.Leu238= | |
| ENST00000644368.1:c.714C>A | ENSP00000495776.1:p.Leu238= | |
| ENST00000644893.1:c.714C>A | ENSP00000495974.1:p.Leu238= | |
| ENST00000645268.1:c.*19C>A | ENSP00000496226.1:n.*19C>A | |
| ENST00000645270.1:c.714C>A | ENSP00000494967.1:p.Leu238= | |
| ENST00000646610.1:c.714C>A | ENSP00000495462.1:p.Leu238= | |
| ENST00000647265.1:c.714C>A | ENSP00000494220.1:p.Leu238= | |
| ENST00000379565.7:c.798C>A | ENSP00000368884.3:p.Leu266= | |
| NM_004586.2:c.798C>A | NP_004577.1:p.Leu266= | |
| XM_005274573.2:c.798C>A | XP_005274630.1:p.Leu266= | |
| XM_005274577.2:c.711C>A | XP_005274634.1:p.Leu237= | |
| XM_006724507.2:c.714C>A | XP_006724570.1:p.Leu238= | |
| XM_011545555.1:c.798C>A | XP_011543857.1:p.Leu266= | |
| XM_011545556.1:c.798C>A | XP_011543858.1:p.Leu266= | |
| XM_011545557.1:c.714C>A | XP_011543859.1:p.Leu238= | |
| XM_011545558.1:c.714C>A | XP_011543860.1:p.Leu238= | |
| XM_011545559.1:c.714C>A | XP_011543861.1:p.Leu238= | |
| XM_011545560.1:c.714C>A | XP_011543862.1:p.Leu238= | |
| XM_011545561.1:c.714C>A | XP_011543863.1:p.Leu238= | |
| XM_011545562.1:c.711C>A | XP_011543864.1:p.Leu237= | |
| XM_011545563.1:c.714C>A | XP_011543865.1:p.Leu238= | |
| XM_005274577.3:c.711C>A | XP_005274634.1:p.Leu237= | |
| XM_006724507.3:c.714C>A | XP_006724570.1:p.Leu238= | |
| XM_011545557.2:c.714C>A | XP_011543859.1:p.Leu238= | |
| XM_011545558.2:c.714C>A | XP_011543860.1:p.Leu238= | |
| XM_011545561.2:c.714C>A | XP_011543863.1:p.Leu238= | |
| XM_011545562.2:c.711C>A | XP_011543864.1:p.Leu237= | |
| XM_011545563.3:c.714C>A | XP_011543865.1:p.Leu238= | |
| XM_017029713.1:c.714C>A | XP_016885202.1:p.Leu238= | |
| XM_017029714.2:c.714C>A | XP_016885203.1:p.Leu238= | |
| XM_017029715.2:c.714C>A | XP_016885204.1:p.Leu238= | |
| XM_017029716.1:c.714C>A | XP_016885205.1:p.Leu238= | |
| XM_017029717.2:c.714C>A | XP_016885206.1:p.Leu238= | |
| XM_017029718.2:c.711C>A | XP_016885207.1:p.Leu237= | |
| XM_017029719.2:c.714C>A | XP_016885208.1:p.Leu238= | |
| NM_004586.3:c.798C>A MANE Select | NP_004577.1:p.Leu266= |