Revel Score:
ENST00000288774
0.321
ENST00000447513 (MANE Select)
0.321
ENST00000507596
0.321
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406766G>C , CM000663.2:g.2406766G>C | GRCh38 |
| NC_000001.10:g.2338205G>C , CM000663.1:g.2338205G>C | GRCh37 |
| NC_000001.9:g.2328065G>C | NCBI36 |
| NG_008342.1:g.10806C>G | |
| NG_016128.1:g.19992G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.790C>G | ENSP00000288774.3:p.Arg264Gly | |
| ENST00000447513.7:c.730C>G MANE Select | ENSP00000407922.2:p.Arg244Gly | |
| ENST00000650293.1:c.684C>G | ||
| ENST00000288774.7:c.790C>G | ENSP00000288774.3:p.Arg264Gly | |
| ENST00000447513.6:c.730C>G | ENSP00000407922.2:p.Arg244Gly | |
| ENST00000507596.5:c.730C>G | ENSP00000424291.1:p.Arg244Gly | |
| ENST00000510434.1:c.*96C>G | ENSP00000423051.1:n.*96C>G | |
| NM_002617.3:c.730C>G | NP_002608.1:p.Arg244Gly | |
| NM_153818.1:c.790C>G | NP_722540.1:p.Arg264Gly | |
| XM_011541573.1:c.787C>G | XP_011539875.1:p.Arg263Gly | |
| XM_011541574.1:c.355C>G | XP_011539876.1:p.Arg119Gly | |
| XM_011541575.1:c.355C>G | XP_011539877.1:p.Arg119Gly | |
| XR_946666.1:n.846C>G | ||
| XR_946666.2:n.795C>G | ||
| NM_001374425.1:c.787C>G | NP_001361354.1:p.Arg263Gly | |
| NM_001374426.1:c.355C>G | NP_001361355.1:p.Arg119Gly | |
| NM_001374427.1:c.298C>G | NP_001361356.1:p.Arg100Gly | |
| NM_002617.4:c.730C>G MANE Select | NP_002608.1:p.Arg244Gly | |
| NM_153818.2:c.790C>G | NP_722540.1:p.Arg264Gly | |
| NR_164636.1:n.845C>G |