Linked Data
dbSNP Id:
rs546047302
ExAC:
2:202589182 G / A
gnomAD v2:
2-202589182-G-A
gnomAD v3:
2-201724459-G-A
gnomAD v4:
2-201724459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201724459G>A , CM000664.2:g.201724459G>A | GRCh38 |
| NC_000002.11:g.202589182G>A , CM000664.1:g.202589182G>A | GRCh37 |
| NC_000002.10:g.202297427G>A | NCBI36 |
| NG_008775.1:g.61714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.3348C>T MANE Select | ENSP00000264276.6:p.Ser1116= | |
| ENST00000439495.6:c.1026C>T | ENSP00000403832.2:p.Ser342= | |
| ENST00000482891.6:n.4116C>T | ||
| ENST00000494017.6:n.1080C>T | ||
| ENST00000679409.1:c.1026C>T | ENSP00000506531.1:p.Ser342= | |
| ENST00000679416.1:n.4852C>T | ||
| ENST00000679435.1:c.3348C>T | ENSP00000505218.1:p.Ser1116= | |
| ENST00000679516.1:c.3348C>T | ENSP00000505187.1:p.Ser1116= | |
| ENST00000679618.1:c.*436C>T | ENSP00000506274.1:n.*436C>T | |
| ENST00000679630.1:n.5197C>T | ||
| ENST00000679686.1:n.3462C>T | ||
| ENST00000679701.1:n.6340C>T | ||
| ENST00000679916.1:c.3348C>T | ENSP00000506172.1:p.Ser1116= | |
| ENST00000680000.1:c.3348C>T | ENSP00000506173.1:p.Ser1116= | |
| ENST00000680135.1:c.*1312C>T | ENSP00000506211.1:n.*1312C>T | |
| ENST00000680149.1:c.3348C>T | ENSP00000506497.1:p.Ser1116= | |
| ENST00000680163.1:c.3348C>T | ENSP00000505092.1:p.Ser1116= | |
| ENST00000680174.1:n.4039C>T | ||
| ENST00000680236.1:c.*409C>T | ENSP00000506212.1:n.*409C>T | |
| ENST00000680497.1:c.3450C>T | ENSP00000505954.1:p.Ser1150= | |
| ENST00000680508.1:c.3348C>T | ENSP00000505749.1:p.Ser1116= | |
| ENST00000680569.1:c.*1059C>T | ENSP00000505522.1:n.*1059C>T | |
| ENST00000680630.1:n.3780C>T | ||
| ENST00000680634.1:n.21-3970C>T | ||
| ENST00000680722.1:n.1148C>T | ||
| ENST00000680723.1:n.4131C>T | ||
| ENST00000680726.1:c.3348C>T | ENSP00000505505.1:p.Ser1116= | |
| ENST00000680737.1:n.3619C>T | ||
| ENST00000680759.1:c.3348C>T | ENSP00000505848.1:p.Ser1116= | |
| ENST00000680814.1:c.3348C>T | ENSP00000505710.1:p.Ser1116= | |
| ENST00000680828.1:c.*920C>T | ENSP00000505249.1:n.*920C>T | |
| ENST00000680861.1:c.3348C>T | ENSP00000505043.1:p.Ser1116= | |
| ENST00000680927.1:c.3348C>T | ENSP00000505473.1:p.Ser1116= | |
| ENST00000680939.1:n.3690C>T | ||
| ENST00000681152.1:c.3348C>T | ENSP00000505388.1:p.Ser1116= | |
| ENST00000681250.1:c.*65C>T | ENSP00000505684.1:n.*65C>T | |
| ENST00000681256.1:c.*1366C>T | ENSP00000505446.1:n.*1366C>T | |
| ENST00000681279.1:n.4116C>T | ||
| ENST00000681303.1:c.3348C>T | ENSP00000505576.1:p.Ser1116= | |
| ENST00000681307.1:n.4461C>T | ||
| ENST00000681461.1:n.4116C>T | ||
| ENST00000681495.1:c.888C>T | ENSP00000506085.1:p.Ser296= | |
| ENST00000681558.1:c.1026C>T | ENSP00000505568.1:p.Ser342= | |
| ENST00000681619.1:c.3348C>T | ENSP00000505071.1:p.Ser1116= | |
| ENST00000681716.1:c.*1059C>T | ENSP00000505078.1:n.*1059C>T | |
| ENST00000681758.1:n.3690C>T | ||
| ENST00000681768.1:c.*1012C>T | ENSP00000506311.1:n.*1012C>T | |
| ENST00000681808.1:c.3348C>T | ENSP00000505219.1:p.Ser1116= | |
| ENST00000264276.10:c.3348C>T | ENSP00000264276.6:p.Ser1116= | |
| ENST00000439495.5:c.1309C>T | ||
| ENST00000482891.5:n.3488C>T | ||
| ENST00000489440.5:n.169C>T | ||
| NM_020919.3:c.3348C>T | NP_065970.2:p.Ser1116= | |
| XM_005246709.2:c.3348C>T | XP_005246766.1:p.Ser1116= | |
| XM_006712654.1:c.3348C>T | XP_006712717.1:p.Ser1116= | |
| XM_006712655.2:c.1284C>T | XP_006712718.1:p.Ser428= | |
| XM_011511530.1:c.3009C>T | XP_011509832.1:p.Ser1003= | |
| XM_011511531.1:c.3348C>T | XP_011509833.1:p.Ser1116= | |
| XR_922974.1:n.3483C>T | ||
| XM_006712654.3:c.3348C>T | XP_006712717.1:p.Ser1116= | |
| XM_006712655.3:c.1284C>T | XP_006712718.1:p.Ser428= | |
| XM_017004569.2:c.3348C>T | XP_016860058.1:p.Ser1116= | |
| XM_017004570.2:c.3348C>T | XP_016860059.1:p.Ser1116= | |
| XM_017004572.2:c.966C>T | XP_016860061.1:p.Ser322= | |
| XM_024453024.1:c.3009C>T | XP_024308792.1:p.Ser1003= | |
| XM_024453025.1:c.1284C>T | XP_024308793.1:p.Ser428= | |
| XR_001738864.2:n.3483C>T | ||
| XR_001738865.2:n.3483C>T | ||
| XR_001738866.2:n.3483C>T | ||
| XR_001738867.2:n.3483C>T | ||
| XR_002959320.1:n.2539C>T | ||
| NM_020919.4:c.3348C>T MANE Select | NP_065970.2:p.Ser1116= |