Revel Score:
ENST00000252486 (MANE Select)
0.523
ENST00000446996
0.523
ENST00000434152
0.523
ENST00000425718
0.523
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908751G>C , CM000681.2:g.44908751G>C | GRCh38 |
| NC_000019.9:g.45412008G>C , CM000681.1:g.45412008G>C | GRCh37 |
| NC_000019.8:g.50103848G>C | NCBI36 |
| NG_007084.2:g.7970G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.455G>C MANE Select | ENSP00000252486.3:p.Arg152Pro | |
| ENST00000252486.8:c.455G>C | ENSP00000252486.3:p.Arg152Pro | |
| ENST00000425718.1:c.455G>C | ENSP00000410423.1:p.Arg152Pro | |
| ENST00000434152.5:c.533G>C | ENSP00000413653.2:p.Arg178Pro | |
| ENST00000446996.5:c.455G>C | ENSP00000413135.1:p.Arg152Pro | |
| NM_000041.3:c.455G>C | NP_000032.1:p.Arg152Pro | |
| NM_001302688.1:c.533G>C | NP_001289617.1:p.Arg178Pro | |
| NM_001302689.1:c.455G>C | NP_001289618.1:p.Arg152Pro | |
| NM_001302690.1:c.455G>C | NP_001289619.1:p.Arg152Pro | |
| NM_001302691.1:c.455G>C | NP_001289620.1:p.Arg152Pro | |
| NM_000041.4:c.455G>C MANE Select | NP_000032.1:p.Arg152Pro | |
| NM_001302688.2:c.533G>C | NP_001289617.1:p.Arg178Pro | |
| NM_001302689.2:c.455G>C | NP_001289618.1:p.Arg152Pro | |
| NM_001302691.2:c.455G>C | NP_001289620.1:p.Arg152Pro | |
| NM_001302690.2:c.455G>C | NP_001289619.1:p.Arg152Pro |