Revel Score:
ENST00000538673
0.766
ENST00000371084 (MANE Select)
0.766
ENST00000371083
0.766
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63629539G>T , CM000663.2:g.63629539G>T | GRCh38 |
| NC_000001.10:g.64095210G>T , CM000663.1:g.64095210G>T | GRCh37 |
| NC_000001.9:g.63867798G>T | NCBI36 |
| NG_016966.1:g.41264G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.361G>T MANE Select | ENSP00000360125.3:p.Gly121Trp | |
| ENST00000650546.1:c.361G>T | ENSP00000497812.1:p.Gly121Trp | |
| ENST00000371083.4:c.415G>T | ENSP00000360124.4:p.Gly139Trp | |
| ENST00000371084.7:c.361G>T | ENSP00000360125.3:p.Gly121Trp | |
| ENST00000540265.5:c.-231G>T | ENSP00000443449.1:n.-231G>T | |
| NM_001172818.1:c.415G>T | NP_001166289.1:p.Gly139Trp | |
| NM_001172819.1:c.-231G>T | NP_001166290.1:n.-231G>T | |
| NM_002633.2:c.361G>T | NP_002624.2:p.Gly121Trp | |
| NM_002633.3:c.361G>T MANE Select | NP_002624.2:p.Gly121Trp | |
| NM_001172819.2:c.-231G>T | NP_001166290.1:n.-231G>T |