Revel Score:
ENST00000283871 (MANE Select)
0.931
ENST00000475447
0.282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120641660C>G , CM000665.2:g.120641660C>G | GRCh38 |
| NC_000003.11:g.120360507C>G , CM000665.1:g.120360507C>G | GRCh37 |
| NC_000003.10:g.121843197C>G | NCBI36 |
| NG_011957.1:g.45822G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.808G>C MANE Select | ENSP00000283871.5:p.Gly270Arg | |
| ENST00000283871.9:c.808G>C | ENSP00000283871.5:p.Gly270Arg | |
| ENST00000470321.1:n.148G>C | ||
| ENST00000475447.2:c.236G>C | ||
| ENST00000492108.5:c.214G>C | ENSP00000419838.1:p.Gly72Arg | |
| ENST00000494453.1:c.228G>C | ||
| NM_000187.3:c.808G>C | NP_000178.2:p.Gly270Arg | |
| XM_005247412.1:c.583G>C | XP_005247469.1:p.Gly195Arg | |
| XM_005247413.1:c.808G>C | XP_005247470.1:p.Gly270Arg | |
| XM_011512746.1:c.808G>C | XP_011511048.1:p.Gly270Arg | |
| XM_005247412.2:c.583G>C | XP_005247469.1:p.Gly195Arg | |
| XM_005247413.2:c.808G>C | XP_005247470.1:p.Gly270Arg | |
| XM_011512746.2:c.808G>C | XP_011511048.1:p.Gly270Arg | |
| XM_017006277.2:c.385G>C | XP_016861766.1:p.Gly129Arg | |
| NM_000187.4:c.808G>C MANE Select | NP_000178.2:p.Gly270Arg |