Revel Score:
ENST00000406386
0.310
ENST00000417174
0.310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37725611G>C , CM000684.2:g.37725611G>C | GRCh38 |
| NC_000022.10:g.38121618G>C , CM000684.1:g.38121618G>C | GRCh37 |
| NC_000022.9:g.36451564G>C | NCBI36 |
| NG_012857.1:g.33624G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3055G>C MANE Select | ENSP00000496394.1:p.Gly1019Arg | |
| ENST00000344404.10:c.*2538G>C | ENSP00000340312.6:n.*2538G>C | |
| ENST00000406386.7:c.3055G>C | ENSP00000384312.3:p.Gly1019Arg | |
| ENST00000455236.4:c.4012G>C | ENSP00000477208.1:n.4012G>C | |
| ENST00000492485.5:n.2989G>C | ||
| NM_001039141.2:c.3055G>C | NP_001034230.1:p.Gly1019Arg | |
| NM_001039141.3:c.3055G>C MANE Select | NP_001034230.1:p.Gly1019Arg |