Revel Score:
ENST00000216756 (MANE Select)
0.265
ENST00000536961
0.265
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102348705C>G , CM000676.2:g.102348705C>G | GRCh38 |
| NC_000014.8:g.102815042C>G , CM000676.1:g.102815042C>G | GRCh37 |
| NC_000014.7:g.101884795C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216756.11:c.491G>C MANE Select | ENSP00000216756.6:p.Arg164Pro | |
| ENST00000216756.10:c.491G>C | ENSP00000216756.6:p.Arg164Pro | |
| ENST00000536961.6:c.536G>C | ENSP00000442057.2:p.Arg179Pro | |
| ENST00000541568.6:c.*4G>C | ENSP00000442377.2:n.*4G>C | |
| ENST00000559504.5:c.492G>C | ||
| ENST00000559514.5:c.491G>C | ENSP00000453839.1:p.Arg164Pro | |
| NM_032630.2:c.491G>C | NP_116019.1:p.Arg164Pro | |
| XM_005267753.1:c.*4G>C | XP_005267810.1:n.*4G>C | |
| XM_011536830.1:c.536G>C | XP_011535132.1:p.Arg179Pro | |
| XM_011536831.1:c.*4G>C | XP_011535133.1:n.*4G>C | |
| NM_001320046.1:c.*4G>C | NP_001306975.1:n.*4G>C | |
| NM_032630.3:c.491G>C MANE Select | NP_116019.1:p.Arg164Pro | |
| NM_001320046.2:c.*4G>C | NP_001306975.1:n.*4G>C |