Linked Data
ClinVar Variation Id:
475001
dbSNP Id:
rs34873318
ExAC:
6:83880099 G / A
gnomAD v2:
6-83880099-G-A
gnomAD v3:
6-83170380-G-A
gnomAD v4:
6-83170380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83170380G>A , CM000668.2:g.83170380G>A | GRCh38 |
| NC_000006.11:g.83880099G>A , CM000668.1:g.83880099G>A | GRCh37 |
| NC_000006.10:g.83936818G>A | NCBI36 |
| NG_034146.1:g.28557C>T | |
| NG_034146.2:g.28521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504780.6:c.*415C>T (PGM3) | ENSP00000421154.2:n.*415C>T | |
| ENST00000505470.6:c.*1244C>T (PGM3) | ENSP00000423769.1:n.*1244C>T | |
| ENST00000507554.2:c.1464C>T (PGM3) | ENSP00000425558.2:p.Tyr488= | |
| ENST00000508748.6:c.1548C>T (PGM3) | ENSP00000424865.2:p.Tyr516= | |
| ENST00000651204.2:c.*202C>T (PGM3) | ENSP00000498912.2:n.*202C>T | |
| ENST00000651698.2:c.*415C>T (PGM3) | ENSP00000498398.2:n.*415C>T | |
| ENST00000652222.2:c.1365C>T (PGM3) | ENSP00000499141.2:p.Tyr455= | |
| ENST00000698524.1:c.1464C>T (PGM3) | ENSP00000513773.1:p.Tyr488= | |
| ENST00000698525.1:c.540C>T (PGM3) | ENSP00000513774.1:p.Tyr180= | |
| ENST00000698526.1:c.1464C>T (PGM3) | ENSP00000513775.1:p.Tyr488= | |
| ENST00000698599.1:c.1464C>T (PGM3) | ENSP00000513827.1:p.Tyr488= | |
| ENST00000698600.1:c.*415C>T (PGM3) | ENSP00000513828.1:n.*415C>T | |
| ENST00000698601.1:c.*1043C>T (PGM3) | ENSP00000513829.1:n.*1043C>T | |
| ENST00000698602.1:c.1464C>T (PGM3) | ENSP00000513830.1:p.Tyr488= | |
| ENST00000698603.1:c.*1240C>T (PGM3) | ENSP00000513831.1:n.*1240C>T | |
| ENST00000698604.1:c.*1002C>T (PGM3) | ENSP00000513832.1:n.*1002C>T | |
| ENST00000698605.1:c.*1244C>T (PGM3) | ENSP00000513833.1:n.*1244C>T | |
| ENST00000698606.1:n.3313C>T (PGM3) | ||
| ENST00000698607.1:c.*1889C>T (PGM3) | ENSP00000513834.1:n.*1889C>T | |
| ENST00000698608.1:c.1122C>T (PGM3) | ENSP00000513835.1:p.Tyr374= | |
| ENST00000698609.1:c.*1922C>T (PGM3) | ENSP00000513836.1:n.*1922C>T | |
| ENST00000698610.1:c.1221C>T (PGM3) | ENSP00000513837.1:p.Tyr407= | |
| ENST00000698611.1:n.5101C>T (PGM3) | ||
| ENST00000698612.1:c.1026C>T (PGM3) | ENSP00000513838.1:p.Tyr342= | |
| ENST00000698613.1:c.1365C>T (PGM3) | ENSP00000513839.1:p.Tyr455= | |
| ENST00000698614.1:c.*415C>T (PGM3) | ENSP00000513840.1:n.*415C>T | |
| ENST00000698615.1:c.*1063C>T (PGM3) | ENSP00000513841.1:n.*1063C>T | |
| ENST00000283977.9:c.1221C>T (PGM3) | ENSP00000283977.5:p.Tyr407= | |
| ENST00000509219.2:c.1464C>T (PGM3) | ENSP00000423389.2:p.Tyr488= | |
| ENST00000513973.6:c.1464C>T (PGM3) MANE Select | ENSP00000424874.1:p.Tyr488= | |
| ENST00000616566.5:c.1098C>T (PGM3) | ENSP00000477539.2:p.Tyr366= | |
| ENST00000650640.1:c.*448C>T (PGM3) | ENSP00000498423.1:n.*448C>T | |
| ENST00000650642.1:c.1341C>T (PGM3) | ENSP00000498516.1:p.Tyr447= | |
| ENST00000651204.1:c.960C>T (PGM3) | ||
| ENST00000651425.1:c.1221C>T (PGM3) | ENSP00000498986.1:p.Tyr407= | |
| ENST00000651698.1:c.578C>T (PGM3) | ||
| ENST00000652222.1:c.1119C>T (PGM3) | ENSP00000499141.1:p.Tyr373= | |
| ENST00000652468.1:c.1464C>T (PGM3) | ENSP00000499112.1:p.Tyr488= | |
| ENST00000283977.8:c.1221C>T (PGM3) | ENSP00000283977.4:p.Tyr407= | |
| ENST00000484282.1:n.4503G>A (DOP1A) | ||
| ENST00000504780.5:c.176C>T (PGM3) | ||
| ENST00000506587.5:c.1548C>T (PGM3) | ENSP00000425809.1:p.Tyr516= | |
| ENST00000509219.1:c.357C>T (PGM3) | ENSP00000423389.1:p.Tyr119= | |
| ENST00000512866.5:c.1464C>T (PGM3) | ENSP00000421565.1:p.Tyr488= | |
| ENST00000513973.5:c.1464C>T (PGM3) | ENSP00000424874.1:p.Tyr488= | |
| ENST00000616566.4:c.1221C>T (PGM3) | ENSP00000477539.1:p.Tyr407= | |
| NM_001199917.1:c.1548C>T (PGM3) | NP_001186846.1:p.Tyr516= | |
| NM_001199918.1:c.1221C>T (PGM3) | NP_001186847.1:p.Tyr407= | |
| NM_001199919.1:c.1464C>T (PGM3) | NP_001186848.1:p.Tyr488= | |
| NM_015599.2:c.1464C>T (PGM3) | NP_056414.1:p.Tyr488= | |
| XM_011535901.1:c.1548C>T (PGM3) | XP_011534203.1:p.Tyr516= | |
| XM_011535902.1:c.1548C>T (PGM3) | XP_011534204.1:p.Tyr516= | |
| XM_011535903.1:c.1548C>T (PGM3) | XP_011534205.1:p.Tyr516= | |
| XR_942476.1:n.1705C>T (PGM3) | ||
| XR_942477.1:n.1690C>T (PGM3) | ||
| XR_942478.1:n.1554C>T (PGM3) | ||
| XR_942479.1:n.1580C>T (PGM3) | ||
| XR_942480.1:n.1348C>T (PGM3) | ||
| XM_011535619.2:c.*738G>A (DOP1A) | XP_011533921.1:n.*738G>A | |
| XM_017010559.1:c.*738G>A (DOP1A) | XP_016866048.1:n.*738G>A | |
| XM_017010560.2:c.*738G>A (DOP1A) | XP_016866049.1:n.*738G>A | |
| XM_017010561.1:c.*738G>A (DOP1A) | XP_016866050.1:n.*738G>A | |
| XM_017010562.2:c.*738G>A (DOP1A) | XP_016866051.1:n.*738G>A | |
| XM_017010564.1:c.*738G>A (DOP1A) | XP_016866053.1:n.*738G>A | |
| XM_017010566.1:c.*738G>A (DOP1A) | XP_016866055.1:n.*738G>A | |
| XM_017010570.1:c.*738G>A (DOP1A) | XP_016866059.1:n.*738G>A | |
| XM_017010571.1:c.*738G>A (DOP1A) | XP_016866060.1:n.*738G>A | |
| XM_017010572.1:c.*738G>A (DOP1A) | XP_016866061.1:n.*738G>A | |
| XM_017010935.1:c.1221C>T (PGM3) | XP_016866424.1:p.Tyr407= | |
| XM_017010937.1:c.1098C>T (PGM3) | XP_016866426.1:p.Tyr366= | |
| XM_024446459.1:c.1341C>T (PGM3) | XP_024302227.1:p.Tyr447= | |
| XM_024446460.1:c.1548C>T (PGM3) | XP_024302228.1:p.Tyr516= | |
| XR_001743468.2:n.1348C>T (PGM3) | ||
| XR_942478.3:n.1554C>T (PGM3) | ||
| XR_942480.2:n.1348C>T (PGM3) | ||
| NM_001199917.2:c.1548C>T (PGM3) | NP_001186846.1:p.Tyr516= | |
| NM_001367286.1:c.1341C>T (PGM3) | NP_001354215.1:p.Tyr447= | |
| NM_001367287.1:c.1548C>T (PGM3) | NP_001354216.1:p.Tyr516= | |
| NM_015599.3:c.1464C>T (PGM3) MANE Select | NP_056414.1:p.Tyr488= | |
| NR_159812.1:n.1553C>T (PGM3) | ||
| NM_001199918.2:c.1221C>T (PGM3) | NP_001186847.1:p.Tyr407= | |
| NM_001199919.2:c.1464C>T (PGM3) | NP_001186848.1:p.Tyr488= | |
| NR_159812.2:n.1553C>T (PGM3) | ||
| NR_169791.1:n.8364G>A (DOP1A) |