Linked Data
ClinVar Variation Id:
264181
dbSNP Id:
rs371588290
ExAC:
X:31697652 C / A
gnomAD v2:
X-31697652-C-A
gnomAD v3:
X-31679535-C-A
gnomAD v4:
X-31679535-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31679535C>A , CM000685.2:g.31679535C>A | GRCh38 |
| NC_000023.10:g.31697652C>A , CM000685.1:g.31697652C>A | GRCh37 |
| NC_000023.9:g.31607573C>A | NCBI36 |
| NG_012232.1:g.1665075G>T , LRG_199:g.1665075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2558G>T | ENSP00000350765.3:p.Arg853Leu | |
| ENST00000682238.1:c.332G>T | ENSP00000508124.1:p.Arg111Leu | |
| ENST00000683117.1:n.1373G>T | ||
| ENST00000683450.1:n.1177G>T | ||
| ENST00000683851.1:n.1373G>T | ||
| ENST00000683957.1:n.1204G>T | ||
| ENST00000684130.1:c.332G>T | ENSP00000508037.1:p.Arg111Leu | |
| ENST00000357033.9:c.7712G>T MANE Select | ENSP00000354923.3:p.Arg2571Leu | |
| ENST00000619831.5:c.3680G>T | ENSP00000479270.2:p.Arg1227Leu | |
| ENST00000620040.5:c.332G>T | ENSP00000478150.2:p.Arg111Leu | |
| ENST00000680961.1:c.332G>T | ENSP00000506386.1:p.Arg111Leu | |
| ENST00000681646.1:n.1373G>T | ||
| ENST00000681839.1:c.701G>T | ENSP00000505228.1:p.Arg234Leu | |
| ENST00000357033.8:c.7712G>T | ENSP00000354923.3:p.Arg2571Leu | |
| ENST00000358062.6:c.800G>T | ENSP00000350765.2:p.Arg267Leu | |
| ENST00000359836.5:c.332G>T | ENSP00000352894.1:p.Arg111Leu | |
| ENST00000378677.6:c.7700G>T | ENSP00000367948.2:p.Arg2567Leu | |
| ENST00000378707.7:c.332G>T | ENSP00000367979.3:p.Arg111Leu | |
| ENST00000474231.5:c.332G>T | ENSP00000417123.1:p.Arg111Leu | |
| ENST00000541735.5:c.332G>T | ENSP00000444119.1:p.Arg111Leu | |
| ENST00000619831.4:c.7697G>T | ENSP00000479270.1:p.Arg2566Leu | |
| ENST00000620040.4:c.7709G>T | ENSP00000478150.1:p.Arg2570Leu | |
| NM_000109.3:c.7688G>T | NP_000100.2:p.Arg2563Leu | |
| NM_004006.2:c.7712G>T , LRG_199t1:c.7712G>T | NP_003997.1:p.Arg2571Leu | |
| NM_004009.3:c.7700G>T | NP_004000.1:p.Arg2567Leu | |
| NM_004010.3:c.7343G>T | NP_004001.1:p.Arg2448Leu | |
| NM_004011.3:c.3689G>T | NP_004002.2:p.Arg1230Leu | |
| NM_004012.3:c.3680G>T | NP_004003.1:p.Arg1227Leu | |
| NM_004013.2:c.332G>T | NP_004004.1:p.Arg111Leu | |
| NM_004020.3:c.332G>T | NP_004011.2:p.Arg111Leu | |
| NM_004021.2:c.332G>T | NP_004012.1:p.Arg111Leu | |
| NM_004022.2:c.332G>T | NP_004013.1:p.Arg111Leu | |
| NM_004023.2:c.332G>T | NP_004014.1:p.Arg111Leu | |
| XM_006724468.2:c.7712G>T | XP_006724531.1:p.Arg2571Leu | |
| XM_006724469.2:c.7688G>T | XP_006724532.1:p.Arg2563Leu | |
| XM_006724470.2:c.7712G>T | XP_006724533.1:p.Arg2571Leu | |
| XM_006724471.2:c.7712G>T | XP_006724534.1:p.Arg2571Leu | |
| XM_006724472.2:c.7583G>T | XP_006724535.1:p.Arg2528Leu | |
| XM_006724473.2:c.7574G>T | XP_006724536.1:p.Arg2525Leu | |
| XM_006724474.2:c.7712G>T | XP_006724537.1:p.Arg2571Leu | |
| XM_006724475.2:c.7712G>T | XP_006724538.1:p.Arg2571Leu | |
| XM_011545467.1:c.7589G>T | XP_011543769.1:p.Arg2530Leu | |
| XM_011545468.1:c.7712G>T | XP_011543770.1:p.Arg2571Leu | |
| XM_006724469.3:c.7688G>T | XP_006724532.1:p.Arg2563Leu | |
| XM_006724470.3:c.7712G>T | XP_006724533.1:p.Arg2571Leu | |
| XM_006724474.3:c.7712G>T | XP_006724537.1:p.Arg2571Leu | |
| XM_011545468.2:c.7712G>T | XP_011543770.1:p.Arg2571Leu | |
| XM_017029328.1:c.7712G>T | XP_016884817.1:p.Arg2571Leu | |
| XM_017029331.1:c.1886G>T | XP_016884820.1:p.Arg629Leu | |
| NM_000109.4:c.7688G>T | NP_000100.3:p.Arg2563Leu | |
| NM_004006.3:c.7712G>T MANE Select | NP_003997.2:p.Arg2571Leu | |
| NM_004011.4:c.3689G>T | NP_004002.3:p.Arg1230Leu | |
| NM_004012.4:c.3680G>T | NP_004003.2:p.Arg1227Leu | |
| NM_004021.3:c.332G>T | NP_004012.2:p.Arg111Leu | |
| NM_004023.3:c.332G>T | NP_004014.2:p.Arg111Leu | |
| NM_004013.3:c.332G>T | NP_004004.2:p.Arg111Leu | |
| NM_004020.4:c.332G>T | NP_004011.3:p.Arg111Leu | |
| NM_004022.3:c.332G>T | NP_004013.2:p.Arg111Leu |