Revel Score:
ENST00000334126 (MANE Select)
0.666
ENST00000313663
0.666
ENST00000313681
0.666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74095306C>A , CM000673.2:g.74095306C>A | GRCh38 |
| NC_000011.9:g.73806351C>A , CM000673.1:g.73806351C>A | GRCh37 |
| NC_000011.8:g.73483999C>A | NCBI36 |
| NG_041791.1:g.80714G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334126.12:c.3082G>T MANE Select | ENSP00000334379.7:p.Asp1028Tyr | |
| ENST00000414160.7:c.3082G>T | ENSP00000388750.3:p.Asp1028Tyr | |
| ENST00000442398.7:c.3082G>T | ENSP00000404577.3:p.Asp1028Tyr | |
| ENST00000538361.2:c.3082G>T | ENSP00000441742.2:p.Asp1028Tyr | |
| ENST00000679415.1:c.*2530G>T | ENSP00000505672.1:n.*2530G>T | |
| ENST00000679906.1:c.3082G>T | ENSP00000505021.1:p.Asp1028Tyr | |
| ENST00000680231.1:c.3082G>T | ENSP00000505413.1:p.Asp1028Tyr | |
| ENST00000680306.1:n.2658G>T | ||
| ENST00000680665.1:c.3082G>T | ENSP00000505527.1:p.Asp1028Tyr | |
| ENST00000680839.1:c.*2039G>T | ENSP00000506002.1:n.*2039G>T | |
| ENST00000681143.1:c.3082G>T | ENSP00000505970.1:p.Asp1028Tyr | |
| ENST00000681291.1:c.*2534G>T | ENSP00000505182.1:n.*2534G>T | |
| ENST00000681310.1:c.3082G>T | ENSP00000506236.1:p.Asp1028Tyr | |
| ENST00000681385.1:c.*2534G>T | ENSP00000505069.1:n.*2534G>T | |
| ENST00000681609.1:c.*1650G>T | ENSP00000505133.1:n.*1650G>T | |
| ENST00000681811.1:c.3082G>T | ENSP00000506315.1:p.Asp1028Tyr | |
| ENST00000681829.1:c.3082G>T | ENSP00000505375.1:p.Asp1028Tyr | |
| ENST00000681924.1:c.3082G>T | ENSP00000505101.1:p.Asp1028Tyr | |
| ENST00000313663.11:c.3082G>T | ENSP00000323339.7:p.Asp1028Tyr | |
| ENST00000334126.11:c.3082G>T | ENSP00000334379.7:p.Asp1028Tyr | |
| NM_001286577.1:c.3082G>T | NP_001273506.1:p.Asp1028Tyr | |
| NM_015531.5:c.3082G>T | NP_056346.3:p.Asp1028Tyr | |
| XM_005273893.3:c.3082G>T | XP_005273950.1:p.Asp1028Tyr | |
| XM_005273896.3:c.2533G>T | XP_005273953.1:p.Asp845Tyr | |
| XM_011544903.1:c.3112G>T | XP_011543205.1:p.Asp1038Tyr | |
| XM_011544904.1:c.3112G>T | XP_011543206.1:p.Asp1038Tyr | |
| XM_011544905.1:c.3112G>T | XP_011543207.1:p.Asp1038Tyr | |
| XM_011544906.1:c.1189G>T | XP_011543208.1:p.Asp397Tyr | |
| XM_011544907.1:c.3112G>T | XP_011543209.1:p.Asp1038Tyr | |
| XM_011544908.1:c.406G>T | XP_011543210.1:p.Asp136Tyr | |
| XM_011544909.1:c.286G>T | XP_011543211.1:p.Asp96Tyr | |
| XR_949869.1:n.3208G>T | ||
| XR_949870.1:n.3208G>T | ||
| XR_949871.1:n.3208G>T | ||
| XR_949872.1:n.3208G>T | ||
| XR_949874.1:n.3208G>T | ||
| XM_017017510.1:c.3112G>T | XP_016872999.1:p.Asp1038Tyr | |
| XM_017017511.2:c.2533G>T | XP_016873000.1:p.Asp845Tyr | |
| XM_017017512.1:c.1543G>T | XP_016873001.1:p.Asp515Tyr | |
| XM_017017513.1:c.1189G>T | XP_016873002.1:p.Asp397Tyr | |
| XM_017017514.1:c.3112G>T | XP_016873003.1:p.Asp1038Tyr | |
| XM_017017515.2:c.406G>T | XP_016873004.1:p.Asp136Tyr | |
| XM_017017516.1:c.286G>T | XP_016873005.1:p.Asp96Tyr | |
| XR_001747826.1:n.3208G>T | ||
| XR_001747827.1:n.3208G>T | ||
| XR_001747828.2:n.3208G>T | ||
| NM_015531.6:c.3082G>T | NP_056346.3:p.Asp1028Tyr | |
| NM_001286577.2:c.3082G>T MANE Select | NP_001273506.1:p.Asp1028Tyr |