Revel Score:
ENST00000430202
0.271
ENST00000441319
0.230
ENST00000295897 (MANE Select)
0.230
ENST00000415165
0.230
ENST00000329326
0.230
ENST00000509063
0.230
ENST00000401494
0.230
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73405117C>G , CM000666.2:g.73405117C>G | GRCh38 |
| NC_000004.11:g.74270834C>G , CM000666.1:g.74270834C>G | GRCh37 |
| NC_000004.10:g.74489698C>G | NCBI36 |
| NG_009291.1:g.5863C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.81C>G MANE Select | ENSP00000295897.4:p.His27Gln | |
| ENST00000295897.8:c.81C>G | ENSP00000295897.4:p.His27Gln | |
| ENST00000401494.7:c.81C>G | ENSP00000384695.3:p.His27Gln | |
| ENST00000415165.6:c.81C>G | ENSP00000401820.2:p.His27Gln | |
| ENST00000441319.5:c.87C>G | ENSP00000392541.1:p.His29Gln | |
| ENST00000476441.6:c.79+711C>G | ENSP00000423727.1:n.79+711C>G | |
| ENST00000503124.5:c.-102+711C>G | ENSP00000421027.1:n.-102+711C>G | |
| ENST00000509063.5:c.81C>G | ENSP00000422784.1:p.His27Gln | |
| ENST00000510166.5:n.121-4C>G | ||
| ENST00000514786.1:n.50C>G | ||
| ENST00000515133.5:n.122C>G | ||
| ENST00000621085.4:c.81C>G | ENSP00000483421.1:p.His27Gln | |
| ENST00000621628.4:c.81C>G | ENSP00000480485.1:p.His27Gln | |
| NM_000477.5:c.81C>G | NP_000468.1:p.His27Gln | |
| NM_000477.6:c.81C>G | NP_000468.1:p.His27Gln | |
| NM_000477.7:c.81C>G MANE Select | NP_000468.1:p.His27Gln |