Linked Data
ClinVar Variation Id:
1507244
ClinVar RCV Id:
RCV002009393
dbSNP Id:
rs1054393663
gnomAD v2:
X-13776552-A-G
gnomAD v4:
X-13758433-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13758433A>G , CM000685.2:g.13758433A>G | GRCh38 |
| NC_000023.10:g.13776552A>G , CM000685.1:g.13776552A>G | GRCh37 |
| NC_000023.9:g.13686473A>G | NCBI36 |
| NG_008872.1:g.28721A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*1332A>G | ENSP00000369941.2:n.*1332A>G | |
| ENST00000398395.8:c.*1115+643A>G | ENSP00000381432.5:n.*1115+643A>G | |
| ENST00000464463.6:n.1802A>G | ||
| ENST00000490265.6:n.2168A>G | ||
| ENST00000682237.1:c.*1199A>G | ENSP00000507121.1:n.*1199A>G | |
| ENST00000682562.1:c.*3041A>G | ENSP00000507874.1:n.*3041A>G | |
| ENST00000682953.1:c.*2366A>G | ENSP00000507878.1:n.*2366A>G | |
| ENST00000683055.1:c.*954A>G | ENSP00000508191.1:n.*954A>G | |
| ENST00000683284.1:c.*1870A>G | ENSP00000507837.1:n.*1870A>G | |
| ENST00000683427.1:c.*311+643A>G | ENSP00000507290.1:n.*311+643A>G | |
| ENST00000683454.1:n.1653A>G | ||
| ENST00000683637.1:n.2748A>G | ||
| ENST00000683655.1:c.*1853A>G | ENSP00000506770.1:n.*1853A>G | |
| ENST00000683713.1:c.*1870A>G | ENSP00000507797.1:n.*1870A>G | |
| ENST00000684577.1:c.*1336A>G | ENSP00000507871.1:n.*1336A>G | |
| ENST00000340096.11:c.1639A>G MANE Select | ENSP00000344314.6:p.Lys547Glu | |
| ENST00000340096.10:c.1639A>G | ENSP00000344314.6:p.Lys547Glu | |
| ENST00000380550.6:c.1519A>G | ENSP00000369923.3:p.Lys507Glu | |
| ENST00000380567.5:c.1219A>G | ENSP00000369941.1:p.Lys407Glu | |
| ENST00000398395.7:c.1011+643A>G | ENSP00000381432.4:n.1011+643A>G | |
| ENST00000490265.5:n.2614A>G | ||
| NM_003611.2:c.1639A>G | NP_003602.1:p.Lys547Glu | |
| XM_005274599.2:c.1660A>G | XP_005274656.1:p.Lys554Glu | |
| XM_005274602.2:c.1660A>G | XP_005274659.1:p.Lys554Glu | |
| XM_005274603.2:c.1540A>G | XP_005274660.1:p.Lys514Glu | |
| XM_005274604.2:c.1519A>G | XP_005274661.1:p.Lys507Glu | |
| XM_005274606.2:c.1495A>G | XP_005274663.1:p.Lys499Glu | |
| XM_005274607.3:c.1219A>G | XP_005274664.1:p.Lys407Glu | |
| XM_011545591.1:c.1660A>G | XP_011543893.1:p.Lys554Glu | |
| XM_011545592.1:c.1447A>G | XP_011543894.1:p.Lys483Glu | |
| XM_011545593.1:c.1660A>G | XP_011543895.1:p.Lys554Glu | |
| XM_011545594.1:c.1318A>G | XP_011543896.1:p.Lys440Glu | |
| XM_011545595.1:c.1318A>G | XP_011543897.1:p.Lys440Glu | |
| XM_011545596.1:c.1660A>G | XP_011543898.1:p.Lys554Glu | |
| XM_011545597.1:c.1219A>G | XP_011543899.1:p.Lys407Glu | |
| XM_011545598.1:c.364A>G | XP_011543900.1:p.Lys122Glu | |
| XR_247288.2:n.1999A>G | ||
| NM_001330209.1:c.1519A>G | NP_001317138.1:p.Lys507Glu | |
| NM_001330210.1:c.1219A>G | NP_001317139.1:p.Lys407Glu | |
| XM_005274606.4:c.1495A>G | XP_005274663.1:p.Lys499Glu | |
| XM_011545592.3:c.1447A>G | XP_011543894.1:p.Lys483Glu | |
| XM_011545594.3:c.1318A>G | XP_011543896.1:p.Lys440Glu | |
| XM_011545597.2:c.1219A>G | XP_011543899.1:p.Lys407Glu | |
| XM_017029909.1:c.1219A>G | XP_016885398.1:p.Lys407Glu | |
| XM_017029911.1:c.697A>G | XP_016885400.1:p.Lys233Glu | |
| XM_024452468.1:c.364A>G | XP_024308236.1:p.Lys122Glu | |
| XM_024452469.1:c.364A>G | XP_024308237.1:p.Lys122Glu | |
| XM_024452470.1:c.364A>G | XP_024308238.1:p.Lys122Glu | |
| XM_024452471.1:c.364A>G | XP_024308239.1:p.Lys122Glu | |
| NM_003611.3:c.1639A>G MANE Select | NP_003602.1:p.Lys547Glu | |
| NM_001330209.2:c.1519A>G | NP_001317138.1:p.Lys507Glu | |
| NM_001330210.2:c.1219A>G | NP_001317139.1:p.Lys407Glu |