Revel Score:
ENST00000340107
0.920
ENST00000440486 (MANE Select)
0.920
ENST00000412135
0.920
ENST00000260795
0.920
ENST00000352904
0.920
ENST00000481110
0.555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1806604G>C , CM000666.2:g.1806604G>C | GRCh38 |
| NC_000004.11:g.1808331G>C , CM000666.1:g.1808331G>C | GRCh37 |
| NC_000004.10:g.1778129G>C | NCBI36 |
| NG_012632.1:g.18293G>C , LRG_1021:g.18293G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.2095G>C | ENSP00000339824.4:p.Gly699Arg | |
| ENST00000260795.8:c.*1145G>C | ENSP00000260795.3:n.*1145G>C | |
| ENST00000352904.6:c.1753G>C | ENSP00000231803.1:p.Gly585Arg | |
| ENST00000412135.7:c.2077G>C | ENSP00000412903.3:p.Gly693Arg | |
| ENST00000440486.8:c.2089G>C MANE Select | ENSP00000414914.2:p.Gly697Arg | |
| ENST00000481110.7:c.2021G>C | ENSP00000420533.2:p.Arg674Pro | |
| ENST00000260795.6:c.2089G>C | ENSP00000260795.2:p.Gly697Arg | |
| ENST00000340107.8:c.2095G>C | ENSP00000339824.4:p.Gly699Arg | |
| ENST00000352904.5:c.1753G>C | ENSP00000231803.1:p.Gly585Arg | |
| ENST00000412135.6:c.1753G>C | ENSP00000412903.2:p.Gly585Arg | |
| ENST00000440486.6:c.2089G>C | ENSP00000414914.2:p.Gly697Arg | |
| ENST00000481110.6:c.2021G>C | ENSP00000420533.2:p.Arg674Pro | |
| ENST00000613647.4:c.*1145G>C | ENSP00000479472.1:n.*1145G>C | |
| NM_000142.4:c.2089G>C , LRG_1021t1:c.2089G>C | NP_000133.1:p.Gly697Arg | |
| NM_001163213.1:c.2095G>C , LRG_1021t2:c.2095G>C | NP_001156685.1:p.Gly699Arg | |
| NM_022965.3:c.1753G>C | NP_075254.1:p.Gly585Arg | |
| XM_006713868.1:c.2101G>C | XP_006713931.1:p.Gly701Arg | |
| XM_006713869.1:c.2101G>C | XP_006713932.1:p.Gly701Arg | |
| XM_006713870.1:c.2098G>C | XP_006713933.1:p.Gly700Arg | |
| XM_006713871.1:c.2095G>C | XP_006713934.1:p.Gly699Arg | |
| XM_006713872.1:c.2092G>C | XP_006713935.1:p.Gly698Arg | |
| XM_006713873.1:c.2089G>C | XP_006713936.1:p.Gly697Arg | |
| XM_011513420.1:c.2095G>C | XP_011511722.1:p.Gly699Arg | |
| XM_011513422.1:c.2092G>C | XP_011511724.1:p.Gly698Arg | |
| NM_001354809.1:c.2092G>C | NP_001341738.1:p.Gly698Arg | |
| NM_001354810.1:c.2021G>C | NP_001341739.1:p.Arg674Pro | |
| NR_148971.1:n.2496G>C | ||
| NM_001354809.2:c.2092G>C | NP_001341738.1:p.Gly698Arg | |
| NM_001354810.2:c.2021G>C | NP_001341739.1:p.Arg674Pro | |
| NR_148971.2:n.2515G>C | ||
| NM_000142.5:c.2089G>C MANE Select | NP_000133.1:p.Gly697Arg | |
| NM_001163213.2:c.2095G>C | NP_001156685.1:p.Gly699Arg | |
| NM_022965.4:c.1753G>C | NP_075254.1:p.Gly585Arg |