Revel Score:
ENST00000261883 (MANE Select)
0.055
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65196790C>G , CM000677.2:g.65196790C>G | GRCh38 |
| NC_000015.9:g.65489128C>G , CM000677.1:g.65489128C>G | GRCh37 |
| NC_000015.8:g.63276181C>G | NCBI36 |
| NG_012214.1:g.19713G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261883.6:c.3496G>C MANE Select | ENSP00000261883.4:p.Gly1166Arg | |
| ENST00000261883.5:c.3496G>C | ENSP00000261883.4:p.Gly1166Arg | |
| NM_003613.3:c.3496G>C | NP_003604.3:p.Gly1166Arg | |
| XM_017022678.2:c.3577G>C | XP_016878167.1:p.Gly1193Arg | |
| XM_017022679.1:c.3424G>C | XP_016878168.1:p.Gly1142Arg | |
| NM_003613.4:c.3496G>C MANE Select | NP_003604.4:p.Gly1166Arg |