Revel Score:
ENST00000298139 (MANE Select)
0.081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31081132C>G , CM000670.2:g.31081132C>G | GRCh38 |
| NC_000008.10:g.30938648C>G , CM000670.1:g.30938648C>G | GRCh37 |
| NC_000008.9:g.31058190C>G | NCBI36 |
| NG_008870.1:g.52871C>G , LRG_524:g.52871C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.1105C>G MANE Select | ENSP00000298139.5:p.Arg369Gly | |
| ENST00000650667.1:c.*719C>G | ENSP00000498593.1:n.*719C>G | |
| ENST00000651642.1:c.400C>G | ENSP00000498779.1:p.Arg134Gly | |
| ENST00000298139.5:c.1105C>G | ENSP00000298139.5:p.Arg369Gly | |
| NM_000553.4:c.1105C>G , LRG_524t1:c.1105C>G | NP_000544.2:p.Arg369Gly | |
| XM_011544639.1:c.1105C>G | XP_011542941.1:p.Arg369Gly | |
| XR_949470.1:n.1378C>G | ||
| XR_949471.1:n.1378C>G | ||
| XR_949472.1:n.1378C>G | ||
| NM_000553.5:c.1105C>G | NP_000544.2:p.Arg369Gly | |
| XM_011544639.3:c.1105C>G | XP_011542941.1:p.Arg369Gly | |
| XM_024447265.1:c.895C>G | XP_024303033.1:p.Arg299Gly | |
| XR_949470.3:n.1406C>G | ||
| XR_949471.3:n.1406C>G | ||
| XR_949472.3:n.1406C>G | ||
| NM_000553.6:c.1105C>G MANE Select | NP_000544.2:p.Arg369Gly |