Revel Score:
ENST00000309244 (MANE Select)
0.958
ENST00000354232
0.958
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51347006C>G , CM000681.2:g.51347006C>G | GRCh38 |
| NC_000019.9:g.51850260C>G , CM000681.1:g.51850260C>G | GRCh37 |
| NC_000019.8:g.56542072C>G | NCBI36 |
| NG_007115.1:g.24413G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309244.9:c.491G>C MANE Select | ENSP00000311930.3:p.Arg164Pro | |
| ENST00000309244.8:c.491G>C | ENSP00000311930.3:p.Arg164Pro | |
| ENST00000354232.8:c.764G>C | ENSP00000346173.3:p.Arg255Pro | |
| ENST00000594361.1:n.1525G>C | ||
| ENST00000596253.1:c.332G>C | ENSP00000469628.1:p.Arg111Pro | |
| NM_001014763.1:c.764G>C | NP_001014763.1:p.Arg255Pro | |
| NM_001985.2:c.491G>C | NP_001976.1:p.Arg164Pro | |
| XM_024451418.1:c.380G>C | XP_024307186.1:p.Arg127Pro | |
| NM_001985.3:c.491G>C MANE Select | NP_001976.1:p.Arg164Pro |