Revel Score:
ENST00000437989
0.351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.36579882T>C , CM000677.2:g.36579882T>C | GRCh38 |
| NC_000015.9:g.36872083T>C , CM000677.1:g.36872083T>C | GRCh37 |
| NC_000015.8:g.34659375T>C | NCBI36 |
| NG_034055.1:g.5280T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566621.6:c.22T>C MANE Select | ENSP00000455397.1:p.Tyr8His | |
| ENST00000569302.6:c.22T>C | ENSP00000456477.1:p.Tyr8His | |
| ENST00000570265.6:c.22T>C | ENSP00000493669.1:p.Tyr8His | |
| ENST00000642817.1:c.22T>C | ENSP00000495947.1:p.Tyr8His | |
| ENST00000643822.1:c.22T>C | ENSP00000493719.1:p.Tyr8His | |
| ENST00000643837.1:n.196T>C | ||
| ENST00000646533.1:c.22T>C | ENSP00000494718.1:p.Tyr8His | |
| ENST00000646657.1:c.22T>C | ENSP00000495542.1:p.Tyr8His | |
| ENST00000437989.6:c.22T>C | ENSP00000401362.2:p.Tyr8His | |
| ENST00000564586.5:c.22T>C | ENSP00000457227.1:p.Tyr8His | |
| ENST00000566621.5:c.22T>C | ENSP00000455397.1:p.Tyr8His | |
| ENST00000567573.5:n.245T>C | ||
| ENST00000569302.5:c.22T>C | ENSP00000456477.1:p.Tyr8His | |
| ENST00000570265.5:n.249T>C | ||
| NM_001130010.2:c.22T>C | NP_001123482.1:p.Tyr8His | |
| NM_001290233.1:c.22T>C | NP_001277162.1:p.Tyr8His | |
| XM_011522110.1:c.22T>C | XP_011520412.1:p.Tyr8His | |
| XM_011522111.1:c.22T>C | XP_011520413.1:p.Tyr8His | |
| XM_011522112.1:c.-227T>C | XP_011520414.1:n.-227T>C | |
| XR_931921.1:n.272T>C | ||
| XR_931922.1:n.272T>C | ||
| XR_931923.1:n.272T>C | ||
| XR_931924.1:n.272T>C | ||
| NM_001321756.1:c.-227T>C | NP_001308685.1:n.-227T>C | |
| NM_001321757.1:c.-382T>C | NP_001308686.1:n.-382T>C | |
| NM_001321758.1:c.22T>C | NP_001308687.1:p.Tyr8His | |
| NM_001321759.1:c.22T>C | NP_001308688.1:p.Tyr8His | |
| NM_001321760.1:c.22T>C | NP_001308689.1:p.Tyr8His | |
| NM_001321761.1:c.22T>C | NP_001308690.1:p.Tyr8His | |
| XM_017022676.1:c.22T>C | XP_016878165.1:p.Tyr8His | |
| XM_017022677.1:c.22T>C | XP_016878166.1:p.Tyr8His | |
| XR_002957689.1:n.272T>C | ||
| NM_001321759.2:c.22T>C MANE Select | NP_001308688.1:p.Tyr8His | |
| NM_001130010.3:c.22T>C | NP_001123482.1:p.Tyr8His | |
| NM_001290233.2:c.22T>C | NP_001277162.1:p.Tyr8His | |
| NM_001321756.2:c.-227T>C | NP_001308685.1:n.-227T>C | |
| NM_001321757.2:c.-382T>C | NP_001308686.1:n.-382T>C | |
| NM_001321758.2:c.22T>C | NP_001308687.1:p.Tyr8His | |
| NM_001321760.2:c.22T>C | NP_001308689.1:p.Tyr8His | |
| NM_001321761.2:c.22T>C | NP_001308690.1:p.Tyr8His |