Revel Score:
ENST00000263642
0.306
ENST00000543192
0.306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162272293C>G , CM000664.2:g.162272293C>G | GRCh38 |
| NC_000002.11:g.163128803C>G , CM000664.1:g.163128803C>G | GRCh37 |
| NC_000002.10:g.162837049C>G | NCBI36 |
| NG_011495.1:g.51237G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*2146G>C | ENSP00000513228.1:n.*2146G>C | |
| ENST00000648433.1:c.2432G>C | ENSP00000496816.1:p.Arg811Pro | |
| ENST00000649554.1:n.2159G>C | ||
| ENST00000649979.2:c.2549G>C MANE Select | ENSP00000497271.1:p.Arg850Pro | |
| ENST00000679938.1:c.2237G>C | ENSP00000505518.1:p.Arg746Pro | |
| ENST00000263642.2:c.2549G>C | ENSP00000263642.2:p.Arg850Pro | |
| NM_022168.3:c.2549G>C | NP_071451.2:p.Arg850Pro | |
| XM_011511628.1:c.1832G>C | XP_011509930.1:p.Arg611Pro | |
| NM_022168.4:c.2549G>C MANE Select | NP_071451.2:p.Arg850Pro |