Revel Score:
ENST00000263642
0.072
ENST00000543192
0.072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162293610A>C , CM000664.2:g.162293610A>C | GRCh38 |
| NC_000002.11:g.163150120A>C , CM000664.1:g.163150120A>C | GRCh37 |
| NC_000002.10:g.162858366A>C | NCBI36 |
| NG_011495.1:g.29920T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*425T>G | ENSP00000513228.1:n.*425T>G | |
| ENST00000648433.1:c.828T>G | ENSP00000496816.1:p.His276Gln | |
| ENST00000649554.1:n.438T>G | ||
| ENST00000649979.2:c.828T>G MANE Select | ENSP00000497271.1:p.His276Gln | |
| ENST00000679938.1:c.516T>G | ENSP00000505518.1:p.His172Gln | |
| ENST00000263642.2:c.828T>G | ENSP00000263642.2:p.His276Gln | |
| ENST00000464129.1:n.521T>G | ||
| NM_022168.3:c.828T>G | NP_071451.2:p.His276Gln | |
| XM_011511628.1:c.111T>G | XP_011509930.1:p.His37Gln | |
| XM_011511629.1:c.828T>G | XP_011509931.1:p.His276Gln | |
| NM_022168.4:c.828T>G MANE Select | NP_071451.2:p.His276Gln |