Revel Score:
ENST00000320005 (MANE Select)
0.291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668055G>C , CM000670.2:g.86668055G>C | GRCh38 |
| NC_000008.10:g.87680283G>C , CM000670.1:g.87680283G>C | GRCh37 |
| NC_000008.9:g.87749399G>C | NCBI36 |
| NG_016980.1:g.80621C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.607C>G MANE Select | ENSP00000316605.5:p.Arg203Gly | |
| ENST00000681746.1:c.607C>G | ENSP00000505959.1:p.Arg203Gly | |
| ENST00000320005.5:c.607C>G | ENSP00000316605.5:p.Arg203Gly | |
| NM_019098.4:c.607C>G | NP_061971.3:p.Arg203Gly | |
| XM_011517138.1:c.193C>G | XP_011515440.1:p.Arg65Gly | |
| XM_011517138.2:c.193C>G | XP_011515440.1:p.Arg65Gly | |
| NM_019098.5:c.607C>G MANE Select | NP_061971.3:p.Arg203Gly |