Linked Data
ClinVar Variation Id:
374948
dbSNP Id:
rs369055628
ExAC:
X:32364157 C / A
gnomAD v2:
X-32364157-C-A
gnomAD v3:
X-32346040-C-A
gnomAD v4:
X-32346040-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32346040C>A , CM000685.2:g.32346040C>A | GRCh38 |
| NC_000023.10:g.32364157C>A , CM000685.1:g.32364157C>A | GRCh37 |
| NC_000023.9:g.32274078C>A | NCBI36 |
| NG_012232.1:g.998570G>T , LRG_199:g.998570G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.335G>T | ENSP00000350765.3:p.Arg112Ile | |
| ENST00000357033.9:c.5489G>T MANE Select | ENSP00000354923.3:p.Arg1830Ile | |
| ENST00000619831.5:c.1457G>T | ENSP00000479270.2:p.Arg486Ile | |
| ENST00000357033.8:c.5489G>T | ENSP00000354923.3:p.Arg1830Ile | |
| ENST00000378677.6:c.5477G>T | ENSP00000367948.2:p.Arg1826Ile | |
| ENST00000488902.5:n.336-128977G>T | ||
| ENST00000493412.1:c.146G>T | ENSP00000417725.1:p.Arg49Ile | |
| ENST00000619831.4:c.5477G>T | ENSP00000479270.1:p.Arg1826Ile | |
| ENST00000620040.4:c.5489G>T | ENSP00000478150.1:p.Arg1830Ile | |
| NM_000109.3:c.5465G>T | NP_000100.2:p.Arg1822Ile | |
| NM_004006.2:c.5489G>T , LRG_199t1:c.5489G>T | NP_003997.1:p.Arg1830Ile | |
| NM_004009.3:c.5477G>T | NP_004000.1:p.Arg1826Ile | |
| NM_004010.3:c.5120G>T | NP_004001.1:p.Arg1707Ile | |
| NM_004011.3:c.1466G>T | NP_004002.2:p.Arg489Ile | |
| NM_004012.3:c.1457G>T | NP_004003.1:p.Arg486Ile | |
| XM_006724468.2:c.5489G>T | XP_006724531.1:p.Arg1830Ile | |
| XM_006724469.2:c.5465G>T | XP_006724532.1:p.Arg1822Ile | |
| XM_006724470.2:c.5489G>T | XP_006724533.1:p.Arg1830Ile | |
| XM_006724471.2:c.5489G>T | XP_006724534.1:p.Arg1830Ile | |
| XM_006724472.2:c.5360G>T | XP_006724535.1:p.Arg1787Ile | |
| XM_006724473.2:c.5448+2366G>T | XP_006724536.1:n.5448+2366G>T | |
| XM_006724474.2:c.5489G>T | XP_006724537.1:p.Arg1830Ile | |
| XM_006724475.2:c.5489G>T | XP_006724538.1:p.Arg1830Ile | |
| XM_011545467.1:c.5366G>T | XP_011543769.1:p.Arg1789Ile | |
| XM_011545468.1:c.5489G>T | XP_011543770.1:p.Arg1830Ile | |
| XM_011545469.1:c.5489G>T | XP_011543771.1:p.Arg1830Ile | |
| XM_006724469.3:c.5465G>T | XP_006724532.1:p.Arg1822Ile | |
| XM_006724470.3:c.5489G>T | XP_006724533.1:p.Arg1830Ile | |
| XM_006724474.3:c.5489G>T | XP_006724537.1:p.Arg1830Ile | |
| XM_011545468.2:c.5489G>T | XP_011543770.1:p.Arg1830Ile | |
| XM_017029328.1:c.5489G>T | XP_016884817.1:p.Arg1830Ile | |
| XM_017029329.1:c.5489G>T | XP_016884818.1:p.Arg1830Ile | |
| XM_017029330.2:c.5489G>T | XP_016884819.1:p.Arg1830Ile | |
| NM_000109.4:c.5465G>T | NP_000100.3:p.Arg1822Ile | |
| NM_004006.3:c.5489G>T MANE Select | NP_003997.2:p.Arg1830Ile | |
| NM_004011.4:c.1466G>T | NP_004002.3:p.Arg489Ile | |
| NM_004012.4:c.1457G>T | NP_004003.2:p.Arg486Ile |