Revel Score:
ENST00000376222
0.087
ENST00000364810
0.087
ENST00000399172
0.087
ENST00000449934 (MANE Select)
0.087
ENST00000421350
0.087
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31412154G>C , CM000668.2:g.31412154G>C | GRCh38 |
| NC_000006.11:g.31379931G>C , CM000668.1:g.31379931G>C | GRCh37 |
| NC_000006.10:g.31487910G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449934.7:c.821G>C MANE Select | ENSP00000413079.1:p.Arg274Pro | |
| ENST00000674069.1:c.407G>C | ENSP00000501157.1:p.Arg136Pro | |
| ENST00000421350.1:c.494G>C | ENSP00000402410.1:p.Arg165Pro | |
| ENST00000449934.6:c.821G>C | ENSP00000413079.1:p.Arg274Pro | |
| ENST00000616296.4:c.530G>C | ENSP00000482382.1:p.Arg177Pro | |
| NM_001177519.2:c.821G>C | NP_001170990.1:p.Arg274Pro | |
| NM_001289152.1:c.530G>C | NP_001276081.1:p.Arg177Pro | |
| NM_001289153.1:c.530G>C | NP_001276082.1:p.Arg177Pro | |
| NM_001289154.1:c.407G>C | NP_001276083.1:p.Arg136Pro | |
| NM_001177519.3:c.821G>C MANE Select | NP_001170990.1:p.Arg274Pro | |
| NM_001289152.2:c.530G>C | NP_001276081.1:p.Arg177Pro | |
| NM_001289153.2:c.530G>C | NP_001276082.1:p.Arg177Pro | |
| NM_001289154.2:c.407G>C | NP_001276083.1:p.Arg136Pro |