ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000375631 (MANE Select)
0.618
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860563C>G , CM000668.2:g.31860563C>G | GRCh38 |
| NC_000006.11:g.31828340C>G , CM000668.1:g.31828340C>G | GRCh37 |
| NC_000006.10:g.31936319C>G | NCBI36 |
| NG_008201.1:g.7370G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.674G>C MANE Select | ENSP00000364782.4:p.Arg225Pro | |
| ENST00000677054.1:n.1917G>C | ||
| ENST00000677512.1:n.782G>C | ||
| ENST00000678869.1:n.1348G>C | ||
| ENST00000375631.4:c.674G>C | ENSP00000364782.4:p.Arg225Pro | |
| ENST00000480384.1:n.703G>C | ||
| ENST00000491768.5:c.674G>C | ENSP00000433127.1:p.Arg225Pro | |
| ENST00000495807.1:n.1808G>C | ||
| NM_000434.3:c.674G>C | NP_000425.1:p.Arg225Pro | |
| NM_000434.4:c.674G>C MANE Select | NP_000425.1:p.Arg225Pro |