Revel Score:
ENST00000506538
0.832
ENST00000513710 (MANE Select)
0.832
ENST00000505303
0.832
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111110280G>C , CM000667.2:g.111110280G>C | GRCh38 |
| NC_000005.9:g.110445979G>C , CM000667.1:g.110445979G>C | GRCh37 |
| NC_000005.8:g.110473878G>C | NCBI36 |
| NG_008979.1:g.23110G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.1418G>C MANE Select | ENSP00000424628.3:p.Arg473Pro | |
| ENST00000505303.5:n.1554G>C | ||
| ENST00000506538.6:c.1586G>C | ENSP00000423067.2:p.Arg529Pro | |
| ENST00000513710.3:c.1418G>C | ENSP00000424628.3:p.Arg473Pro | |
| ENST00000612402.4:c.1586G>C | ENSP00000479950.1:p.Arg529Pro | |
| NM_139281.2:c.1586G>C | NP_644810.1:p.Arg529Pro | |
| XM_011543163.1:c.1586G>C | XP_011541465.1:p.Arg529Pro | |
| NM_139281.3:c.1418G>C MANE Select | NP_644810.2:p.Arg473Pro |