Revel Score:
ENST00000272371 (MANE Select)
0.587
ENST00000403946
0.587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26489687G>C , CM000664.2:g.26489687G>C | GRCh38 |
| NC_000002.11:g.26712555G>C , CM000664.1:g.26712555G>C | GRCh37 |
| NC_000002.10:g.26566059G>C | NCBI36 |
| NG_009937.1:g.74012C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.951C>G MANE Select | ENSP00000272371.2:p.Ile317Met | |
| ENST00000272371.6:c.951C>G | ENSP00000272371.2:p.Ile317Met | |
| ENST00000403946.7:c.951C>G | ENSP00000385255.3:p.Ile317Met | |
| NM_001287489.1:c.951C>G | NP_001274418.1:p.Ile317Met | |
| NM_194248.2:c.951C>G | NP_919224.1:p.Ile317Met | |
| XM_005264644.2:c.996C>G | XP_005264701.1:p.Ile332Met | |
| XM_011533185.1:c.996C>G | XP_011531487.1:p.Ile332Met | |
| XM_017005338.1:c.951C>G | XP_016860827.1:p.Ile317Met | |
| NM_001287489.2:c.951C>G | NP_001274418.1:p.Ile317Met | |
| NM_194248.3:c.951C>G MANE Select | NP_919224.1:p.Ile317Met |