MyVariant.info:
GRCh37
chr3:g.167422677G>T
Revel Score:
ENST00000479121
0.248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167704889G>T , CM000665.2:g.167704889G>T | GRCh38 |
| NC_000003.11:g.167422677G>T , CM000665.1:g.167422677G>T | GRCh37 |
| NC_000003.10:g.168905371G>T | NCBI36 |
| NG_008158.1:g.34975C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392750.7:c.103C>A MANE Select | ENSP00000376506.2:p.Arg35= | |
| ENST00000392750.6:c.103C>A | ENSP00000376506.2:p.Arg35= | |
| ENST00000461494.5:c.103C>A | ENSP00000420021.1:p.Arg35= | |
| ENST00000462725.6:c.103C>A | ENSP00000420424.2:p.Arg35= | |
| ENST00000464360.5:c.103C>A | ENSP00000418160.1:p.Arg35= | |
| ENST00000470131.5:c.103C>A | ENSP00000417202.1:p.Arg35= | |
| ENST00000471885.5:c.103C>A | ENSP00000417876.1:p.Arg35= | |
| ENST00000473645.6:c.103C>A | ENSP00000418317.2:p.Arg35= | |
| ENST00000475915.6:c.103C>A | ENSP00000417118.2:p.Arg35= | |
| ENST00000479121.5:c.44C>A | ||
| ENST00000481136.1:n.343C>A | ||
| ENST00000483451.5:n.827C>A | ||
| ENST00000487947.6:c.103C>A | ENSP00000420266.2:p.Arg35= | |
| ENST00000492139.5:c.103C>A | ENSP00000420014.1:p.Arg35= | |
| ENST00000492396.5:c.-87C>A | ENSP00000417309.1:n.-87C>A | |
| ENST00000494502.6:c.103C>A | ENSP00000420450.2:p.Arg35= | |
| ENST00000497056.6:c.103C>A | ENSP00000420553.2:p.Arg35= | |
| NM_007217.3:c.103C>A | NP_009148.2:p.Arg35= | |
| NM_145859.1:c.103C>A | NP_665858.1:p.Arg35= | |
| NM_145860.1:c.103C>A | NP_665859.1:p.Arg35= | |
| XM_005247086.3:c.103C>A | XP_005247143.1:p.Arg35= | |
| XM_005247087.3:c.103C>A | XP_005247144.1:p.Arg35= | |
| XM_005247088.2:c.103C>A | XP_005247145.1:p.Arg35= | |
| XM_006713485.2:c.103C>A | XP_006713548.1:p.Arg35= | |
| XM_011512368.1:c.103C>A | XP_011510670.1:p.Arg35= | |
| XM_011512369.1:c.103C>A | XP_011510671.1:p.Arg35= | |
| XM_011512370.1:c.-215C>A | XP_011510672.1:n.-215C>A | |
| XM_005247086.5:c.103C>A | XP_005247143.1:p.Arg35= | |
| XM_005247087.5:c.103C>A | XP_005247144.1:p.Arg35= | |
| XM_005247088.4:c.103C>A | XP_005247145.1:p.Arg35= | |
| XM_006713485.4:c.103C>A | XP_006713548.1:p.Arg35= | |
| XM_011512368.3:c.103C>A | XP_011510670.1:p.Arg35= | |
| XM_011512369.3:c.103C>A | XP_011510671.1:p.Arg35= | |
| XM_017005644.2:c.103C>A | XP_016861133.1:p.Arg35= | |
| XM_017005645.2:c.-215C>A | XP_016861134.1:n.-215C>A | |
| XM_024453329.1:c.-215C>A | XP_024309097.1:n.-215C>A | |
| XM_024453330.1:c.-215C>A | XP_024309098.1:n.-215C>A | |
| XM_024453331.1:c.-215C>A | XP_024309099.1:n.-215C>A | |
| NM_007217.4:c.103C>A MANE Select | NP_009148.2:p.Arg35= | |
| NM_145859.2:c.103C>A | NP_665858.1:p.Arg35= | |
| NM_145860.2:c.103C>A | NP_665859.1:p.Arg35= |