Revel Score:
ENST00000299314 (MANE Select)
0.741
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753409G>C , CM000674.2:g.101753409G>C | GRCh38 |
| NC_000012.11:g.102147187G>C , CM000674.1:g.102147187G>C | GRCh37 |
| NC_000012.10:g.100671318G>C | NCBI36 |
| NG_021243.1:g.82459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3565C>G MANE Select | ENSP00000299314.7:p.Arg1189Gly | |
| ENST00000299314.11:c.3565C>G | ENSP00000299314.7:p.Arg1189Gly | |
| ENST00000549738.5:c.463C>G | ENSP00000450161.1:n.463C>G | |
| NM_024312.4:c.3565C>G | NP_077288.2:p.Arg1189Gly | |
| XM_011538731.1:c.3484C>G | XP_011537033.1:p.Arg1162Gly | |
| XM_011538731.2:c.3484C>G | XP_011537033.1:p.Arg1162Gly | |
| XM_017019961.1:c.3349C>G | XP_016875450.1:p.Arg1117Gly | |
| XM_017019962.2:c.2338C>G | XP_016875451.1:p.Arg780Gly | |
| NM_024312.5:c.3565C>G MANE Select | NP_077288.2:p.Arg1189Gly |