Linked Data
ClinVar Variation Id:
94478
dbSNP Id:
rs150199251
ExAC:
X:32591728 T / A
gnomAD v2:
X-32591728-T-A
gnomAD v3:
X-32573611-T-A
gnomAD v4:
X-32573611-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32573611T>A , CM000685.2:g.32573611T>A | GRCh38 |
| NC_000023.10:g.32591728T>A , CM000685.1:g.32591728T>A | GRCh37 |
| NC_000023.9:g.32501649T>A | NCBI36 |
| NG_012232.1:g.770999A>T , LRG_199:g.770999A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682071.1:c.1362A>T | ENSP00000508133.1:p.Glu454Asp | |
| ENST00000682899.1:n.1938A>T | ||
| ENST00000682924.1:c.*230A>T | ENSP00000508187.1:n.*230A>T | |
| ENST00000683985.1:n.1938A>T | ||
| ENST00000684165.1:n.1938A>T | ||
| ENST00000684292.1:n.1938A>T | ||
| ENST00000288447.9:c.1707A>T | ENSP00000288447.4:p.Glu569Asp | |
| ENST00000357033.9:c.1731A>T MANE Select | ENSP00000354923.3:p.Glu577Asp | |
| ENST00000288447.8:c.1707A>T | ENSP00000288447.4:p.Glu569Asp | |
| ENST00000357033.8:c.1731A>T | ENSP00000354923.3:p.Glu577Asp | |
| ENST00000378677.6:c.1719A>T | ENSP00000367948.2:p.Glu573Asp | |
| ENST00000420596.5:c.94-208412A>T | ENSP00000399897.1:n.94-208412A>T | |
| ENST00000447523.1:c.375A>T | ENSP00000395904.1:p.Glu125Asp | |
| ENST00000448370.5:c.94-208901A>T | ENSP00000388559.1:n.94-208901A>T | |
| ENST00000480751.1:n.215A>T | ||
| ENST00000488902.5:n.336-356548A>T | ||
| ENST00000619831.4:c.1719A>T | ENSP00000479270.1:p.Glu573Asp | |
| ENST00000620040.4:c.1731A>T | ENSP00000478150.1:p.Glu577Asp | |
| NM_000109.3:c.1707A>T | NP_000100.2:p.Glu569Asp | |
| NM_004006.2:c.1731A>T , LRG_199t1:c.1731A>T | NP_003997.1:p.Glu577Asp | |
| NM_004009.3:c.1719A>T | NP_004000.1:p.Glu573Asp | |
| NM_004010.3:c.1362A>T | NP_004001.1:p.Glu454Asp | |
| XM_006724468.2:c.1731A>T | XP_006724531.1:p.Glu577Asp | |
| XM_006724469.2:c.1707A>T | XP_006724532.1:p.Glu569Asp | |
| XM_006724470.2:c.1731A>T | XP_006724533.1:p.Glu577Asp | |
| XM_006724471.2:c.1731A>T | XP_006724534.1:p.Glu577Asp | |
| XM_006724472.2:c.1602A>T | XP_006724535.1:p.Glu534Asp | |
| XM_006724473.2:c.1731A>T | XP_006724536.1:p.Glu577Asp | |
| XM_006724474.2:c.1731A>T | XP_006724537.1:p.Glu577Asp | |
| XM_006724475.2:c.1731A>T | XP_006724538.1:p.Glu577Asp | |
| XM_011545467.1:c.1731A>T | XP_011543769.1:p.Glu577Asp | |
| XM_011545468.1:c.1731A>T | XP_011543770.1:p.Glu577Asp | |
| XM_011545469.1:c.1731A>T | XP_011543771.1:p.Glu577Asp | |
| XM_006724469.3:c.1707A>T | XP_006724532.1:p.Glu569Asp | |
| XM_006724470.3:c.1731A>T | XP_006724533.1:p.Glu577Asp | |
| XM_006724474.3:c.1731A>T | XP_006724537.1:p.Glu577Asp | |
| XM_011545468.2:c.1731A>T | XP_011543770.1:p.Glu577Asp | |
| XM_017029328.1:c.1731A>T | XP_016884817.1:p.Glu577Asp | |
| XM_017029329.1:c.1731A>T | XP_016884818.1:p.Glu577Asp | |
| XM_017029330.2:c.1731A>T | XP_016884819.1:p.Glu577Asp | |
| NM_000109.4:c.1707A>T | NP_000100.3:p.Glu569Asp | |
| NM_004006.3:c.1731A>T MANE Select | NP_003997.2:p.Glu577Asp |