Linked Data
ClinVar Variation Id:
368239
dbSNP Id:
rs1057515869
gnomAD v2:
X-32328352-G-A
gnomAD v4:
X-32310235-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32310235G>A , CM000685.2:g.32310235G>A | GRCh38 |
| NC_000023.10:g.32328352G>A , CM000685.1:g.32328352G>A | GRCh37 |
| NC_000023.9:g.32238273G>A | NCBI36 |
| NG_012232.1:g.1034375C>T , LRG_199:g.1034375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.810C>T | ENSP00000350765.3:p.Asp270= | |
| ENST00000357033.9:c.5964C>T MANE Select | ENSP00000354923.3:p.Asp1988= | |
| ENST00000619831.5:c.1932C>T | ENSP00000479270.2:p.Asp644= | |
| ENST00000357033.8:c.5964C>T | ENSP00000354923.3:p.Asp1988= | |
| ENST00000378677.6:c.5952C>T | ENSP00000367948.2:p.Asp1984= | |
| ENST00000488902.5:n.336-93172C>T | ||
| ENST00000619831.4:c.5952C>T | ENSP00000479270.1:p.Asp1984= | |
| ENST00000620040.4:c.5964C>T | ENSP00000478150.1:p.Asp1988= | |
| NM_000109.3:c.5940C>T | NP_000100.2:p.Asp1980= | |
| NM_004006.2:c.5964C>T , LRG_199t1:c.5964C>T | NP_003997.1:p.Asp1988= | |
| NM_004009.3:c.5952C>T | NP_004000.1:p.Asp1984= | |
| NM_004010.3:c.5595C>T | NP_004001.1:p.Asp1865= | |
| NM_004011.3:c.1941C>T | NP_004002.2:p.Asp647= | |
| NM_004012.3:c.1932C>T | NP_004003.1:p.Asp644= | |
| XM_006724468.2:c.5964C>T | XP_006724531.1:p.Asp1988= | |
| XM_006724469.2:c.5940C>T | XP_006724532.1:p.Asp1980= | |
| XM_006724470.2:c.5964C>T | XP_006724533.1:p.Asp1988= | |
| XM_006724471.2:c.5964C>T | XP_006724534.1:p.Asp1988= | |
| XM_006724472.2:c.5835C>T | XP_006724535.1:p.Asp1945= | |
| XM_006724473.2:c.5826C>T | XP_006724536.1:p.Asp1942= | |
| XM_006724474.2:c.5964C>T | XP_006724537.1:p.Asp1988= | |
| XM_006724475.2:c.5964C>T | XP_006724538.1:p.Asp1988= | |
| XM_011545467.1:c.5841C>T | XP_011543769.1:p.Asp1947= | |
| XM_011545468.1:c.5964C>T | XP_011543770.1:p.Asp1988= | |
| XM_006724469.3:c.5940C>T | XP_006724532.1:p.Asp1980= | |
| XM_006724470.3:c.5964C>T | XP_006724533.1:p.Asp1988= | |
| XM_006724474.3:c.5964C>T | XP_006724537.1:p.Asp1988= | |
| XM_011545468.2:c.5964C>T | XP_011543770.1:p.Asp1988= | |
| XM_017029328.1:c.5964C>T | XP_016884817.1:p.Asp1988= | |
| XM_017029329.1:c.5964C>T | XP_016884818.1:p.Asp1988= | |
| XM_017029330.2:c.5964C>T | XP_016884819.1:p.Asp1988= | |
| XM_017029331.1:c.138C>T | XP_016884820.1:p.Asp46= | |
| NM_000109.4:c.5940C>T | NP_000100.3:p.Asp1980= | |
| NM_004006.3:c.5964C>T MANE Select | NP_003997.2:p.Asp1988= | |
| NM_004011.4:c.1941C>T | NP_004002.3:p.Asp647= | |
| NM_004012.4:c.1932C>T | NP_004003.2:p.Asp644= |