Linked Data
ClinVar Variation Id:
409932
dbSNP Id:
rs751221923
ExAC:
X:32364115 C / T
gnomAD v2:
X-32364115-C-T
gnomAD v3:
X-32345998-C-T
gnomAD v4:
X-32345998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32345998C>T , CM000685.2:g.32345998C>T | GRCh38 |
| NC_000023.10:g.32364115C>T , CM000685.1:g.32364115C>T | GRCh37 |
| NC_000023.9:g.32274036C>T | NCBI36 |
| NG_012232.1:g.998612G>A , LRG_199:g.998612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.377G>A | ENSP00000350765.3:p.Arg126Gln | |
| ENST00000357033.9:c.5531G>A MANE Select | ENSP00000354923.3:p.Arg1844Gln | |
| ENST00000619831.5:c.1499G>A | ENSP00000479270.2:p.Arg500Gln | |
| ENST00000357033.8:c.5531G>A | ENSP00000354923.3:p.Arg1844Gln | |
| ENST00000378677.6:c.5519G>A | ENSP00000367948.2:p.Arg1840Gln | |
| ENST00000488902.5:n.336-128935G>A | ||
| ENST00000493412.1:c.188G>A | ENSP00000417725.1:p.Arg63Gln | |
| ENST00000619831.4:c.5519G>A | ENSP00000479270.1:p.Arg1840Gln | |
| ENST00000620040.4:c.5531G>A | ENSP00000478150.1:p.Arg1844Gln | |
| NM_000109.3:c.5507G>A | NP_000100.2:p.Arg1836Gln | |
| NM_004006.2:c.5531G>A , LRG_199t1:c.5531G>A | NP_003997.1:p.Arg1844Gln | |
| NM_004009.3:c.5519G>A | NP_004000.1:p.Arg1840Gln | |
| NM_004010.3:c.5162G>A | NP_004001.1:p.Arg1721Gln | |
| NM_004011.3:c.1508G>A | NP_004002.2:p.Arg503Gln | |
| NM_004012.3:c.1499G>A | NP_004003.1:p.Arg500Gln | |
| XM_006724468.2:c.5531G>A | XP_006724531.1:p.Arg1844Gln | |
| XM_006724469.2:c.5507G>A | XP_006724532.1:p.Arg1836Gln | |
| XM_006724470.2:c.5531G>A | XP_006724533.1:p.Arg1844Gln | |
| XM_006724471.2:c.5531G>A | XP_006724534.1:p.Arg1844Gln | |
| XM_006724472.2:c.5402G>A | XP_006724535.1:p.Arg1801Gln | |
| XM_006724473.2:c.5448+2408G>A | XP_006724536.1:n.5448+2408G>A | |
| XM_006724474.2:c.5531G>A | XP_006724537.1:p.Arg1844Gln | |
| XM_006724475.2:c.5531G>A | XP_006724538.1:p.Arg1844Gln | |
| XM_011545467.1:c.5408G>A | XP_011543769.1:p.Arg1803Gln | |
| XM_011545468.1:c.5531G>A | XP_011543770.1:p.Arg1844Gln | |
| XM_011545469.1:c.5531G>A | XP_011543771.1:p.Arg1844Gln | |
| XM_006724469.3:c.5507G>A | XP_006724532.1:p.Arg1836Gln | |
| XM_006724470.3:c.5531G>A | XP_006724533.1:p.Arg1844Gln | |
| XM_006724474.3:c.5531G>A | XP_006724537.1:p.Arg1844Gln | |
| XM_011545468.2:c.5531G>A | XP_011543770.1:p.Arg1844Gln | |
| XM_017029328.1:c.5531G>A | XP_016884817.1:p.Arg1844Gln | |
| XM_017029329.1:c.5531G>A | XP_016884818.1:p.Arg1844Gln | |
| XM_017029330.2:c.5531G>A | XP_016884819.1:p.Arg1844Gln | |
| NM_000109.4:c.5507G>A | NP_000100.3:p.Arg1836Gln | |
| NM_004006.3:c.5531G>A MANE Select | NP_003997.2:p.Arg1844Gln | |
| NM_004011.4:c.1508G>A | NP_004002.3:p.Arg503Gln | |
| NM_004012.4:c.1499G>A | NP_004003.2:p.Arg500Gln |