Linked Data
ClinVar Variation Id:
208757
ClinVar RCV Id:
RCV000190777
dbSNP Id:
rs797044934
gnomAD v4:
2-201704160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201704160G>A , CM000664.2:g.201704160G>A | GRCh38 |
| NC_000002.11:g.202568883G>A , CM000664.1:g.202568883G>A | GRCh37 |
| NC_000002.10:g.202277128G>A | NCBI36 |
| NG_008775.1:g.82013C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264276.11:c.4897C>T MANE Select | ENSP00000264276.6:p.Gln1633Ter | |
| ENST00000439495.6:c.*1077C>T | ENSP00000403832.2:n.*1077C>T | |
| ENST00000679409.1:c.*1602C>T | ENSP00000506531.1:n.*1602C>T | |
| ENST00000679416.1:n.6401C>T | ||
| ENST00000679427.1:n.2568C>T | ||
| ENST00000679435.1:c.4897C>T | ENSP00000505218.1:p.Gln1633Ter | |
| ENST00000679516.1:c.4897C>T | ENSP00000505187.1:p.Gln1633Ter | |
| ENST00000679618.1:c.*1985C>T | ENSP00000506274.1:n.*1985C>T | |
| ENST00000679630.1:n.6746C>T | ||
| ENST00000679635.1:n.3159C>T | ||
| ENST00000679686.1:n.5011C>T | ||
| ENST00000679701.1:n.7889C>T | ||
| ENST00000679916.1:c.*1245C>T | ENSP00000506172.1:n.*1245C>T | |
| ENST00000680000.1:c.4897C>T | ENSP00000506173.1:p.Gln1633Ter | |
| ENST00000680135.1:c.*2858C>T | ENSP00000506211.1:n.*2858C>T | |
| ENST00000680149.1:c.*179C>T | ENSP00000506497.1:n.*179C>T | |
| ENST00000680163.1:c.4897C>T | ENSP00000505092.1:p.Gln1633Ter | |
| ENST00000680174.1:n.5588C>T | ||
| ENST00000680236.1:c.*1958C>T | ENSP00000506212.1:n.*1958C>T | |
| ENST00000680404.1:n.412C>T | ||
| ENST00000680441.1:n.3455C>T | ||
| ENST00000680497.1:c.4999C>T | ENSP00000505954.1:p.Gln1667Ter | |
| ENST00000680508.1:c.*53C>T | ENSP00000505749.1:n.*53C>T | |
| ENST00000680569.1:c.*2840C>T | ENSP00000505522.1:n.*2840C>T | |
| ENST00000680634.1:n.1405C>T | ||
| ENST00000680722.1:n.2697C>T | ||
| ENST00000680726.1:c.*179C>T | ENSP00000505505.1:n.*179C>T | |
| ENST00000680759.1:c.4729C>T | ENSP00000505848.1:p.Gln1577Ter | |
| ENST00000680814.1:c.4838+294C>T | ENSP00000505710.1:n.4838+294C>T | |
| ENST00000680828.1:c.*2591C>T | ENSP00000505249.1:n.*2591C>T | |
| ENST00000680861.1:c.4897C>T | ENSP00000505043.1:p.Gln1633Ter | |
| ENST00000680927.1:c.*1077C>T | ENSP00000505473.1:n.*1077C>T | |
| ENST00000680939.1:n.6838C>T | ||
| ENST00000681250.1:c.*1614C>T | ENSP00000505684.1:n.*1614C>T | |
| ENST00000681256.1:c.*2912C>T | ENSP00000505446.1:n.*2912C>T | |
| ENST00000681279.1:n.5763C>T | ||
| ENST00000681307.1:n.6010C>T | ||
| ENST00000681461.1:n.5665C>T | ||
| ENST00000681495.1:c.2434C>T | ENSP00000506085.1:p.Gln812Ter | |
| ENST00000681558.1:c.2575C>T | ENSP00000505568.1:p.Gln859Ter | |
| ENST00000681619.1:c.4894C>T | ENSP00000505071.1:p.Gln1632Ter | |
| ENST00000681663.1:n.1803C>T | ||
| ENST00000681692.1:n.2857C>T | ||
| ENST00000681716.1:c.*2751C>T | ENSP00000505078.1:n.*2751C>T | |
| ENST00000681768.1:c.*2561C>T | ENSP00000506311.1:n.*2561C>T | |
| ENST00000681808.1:c.4720C>T | ENSP00000505219.1:p.Gln1574Ter | |
| ENST00000264276.10:c.4897C>T | ENSP00000264276.6:p.Gln1633Ter | |
| ENST00000439495.5:c.3001C>T | ||
| NM_020919.3:c.4897C>T | NP_065970.2:p.Gln1633Ter | |
| XM_005246709.2:c.4894C>T | XP_005246766.1:p.Gln1632Ter | |
| XM_006712654.1:c.4897C>T | XP_006712717.1:p.Gln1633Ter | |
| XM_006712655.2:c.2833C>T | XP_006712718.1:p.Gln945Ter | |
| XM_011511530.1:c.4558C>T | XP_011509832.1:p.Gln1520Ter | |
| XR_922974.1:n.5175C>T | ||
| XM_006712654.3:c.4897C>T | XP_006712717.1:p.Gln1633Ter | |
| XM_006712655.3:c.2833C>T | XP_006712718.1:p.Gln945Ter | |
| XM_017004569.2:c.4894C>T | XP_016860058.1:p.Gln1632Ter | |
| XM_017004572.2:c.2515C>T | XP_016860061.1:p.Gln839Ter | |
| XM_024453024.1:c.4558C>T | XP_024308792.1:p.Gln1520Ter | |
| XM_024453025.1:c.2830C>T | XP_024308793.1:p.Gln944Ter | |
| XR_001738864.2:n.5012C>T | ||
| XR_001738865.2:n.5009C>T | ||
| XR_001738866.2:n.5175C>T | ||
| XR_001738867.2:n.5172C>T | ||
| XR_002959320.1:n.4068C>T | ||
| NM_020919.4:c.4897C>T MANE Select | NP_065970.2:p.Gln1633Ter |