Revel Score:
ENST00000361547 (MANE Select)
0.824
ENST00000354177
0.824
ENST00000374315
0.824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25813899G>C , CM000663.2:g.25813899G>C | GRCh38 |
| NC_000001.10:g.26140390G>C , CM000663.1:g.26140390G>C | GRCh37 |
| NC_000001.9:g.26012977G>C | NCBI36 |
| NG_009930.1:g.18724G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.1235G>C | ENSP00000346109.5:p.Arg412Pro | |
| ENST00000494537.2:c.1393G>C | ENSP00000508308.1:p.Gly465Arg | |
| ENST00000361547.7:c.1406G>C MANE Select | ENSP00000355141.2:p.Arg469Pro | |
| ENST00000354177.8:c.1304G>C | ENSP00000346109.4:p.Arg435Pro | |
| ENST00000361547.6:c.1406G>C | ENSP00000355141.2:p.Arg469Pro | |
| ENST00000374315.1:c.1304G>C | ENSP00000363434.1:p.Arg435Pro | |
| ENST00000494537.1:n.173G>C | ||
| ENST00000559265.1:n.255+2020G>C | ||
| ENST00000630065.2:c.-167G>C | ENSP00000487549.1:n.-167G>C | |
| NM_020451.2:c.1406G>C | NP_065184.2:p.Arg469Pro | |
| NM_206926.1:c.1304G>C | NP_996809.1:p.Arg435Pro | |
| NM_020451.3:c.1406G>C MANE Select | NP_065184.2:p.Arg469Pro | |
| NM_206926.2:c.1304G>C | NP_996809.1:p.Arg435Pro |