Revel Score:
ENST00000403662 (MANE Select)
0.667
ENST00000539104
0.667
ENST00000262825
0.667
ENST00000406230
0.667
ENST00000536485
0.667
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36933957C>G , CM000684.2:g.36933957C>G | GRCh38 |
| NC_000022.10:g.37329999C>G , CM000684.1:g.37329999C>G | GRCh37 |
| NC_000022.9:g.35659945C>G | NCBI36 |
| NG_008040.1:g.25325C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403662.8:c.1278C>G MANE Select | ENSP00000384053.3:p.Ser426Arg | |
| ENST00000262825.9:c.1278C>G | ENSP00000262825.6:p.Ser426Arg | |
| ENST00000403662.7:c.1278C>G | ENSP00000384053.3:p.Ser426Arg | |
| ENST00000406230.5:c.1296C>G | ENSP00000385271.1:p.Ser432Arg | |
| NM_000395.2:c.1278C>G | NP_000386.1:p.Ser426Arg | |
| XM_005261340.2:c.1296C>G | XP_005261397.1:p.Ser432Arg | |
| XM_011529903.1:c.1296C>G | XP_011528205.1:p.Ser432Arg | |
| XM_011529904.1:c.1278C>G | XP_011528206.1:p.Ser426Arg | |
| XM_011529905.1:c.1296C>G | XP_011528207.1:p.Ser432Arg | |
| XM_005261340.3:c.1296C>G | XP_005261397.1:p.Ser432Arg | |
| XM_011529903.2:c.1296C>G | XP_011528205.1:p.Ser432Arg | |
| XM_011529904.2:c.1278C>G | XP_011528206.1:p.Ser426Arg | |
| XM_011529905.2:c.1296C>G | XP_011528207.1:p.Ser432Arg | |
| NM_000395.3:c.1278C>G MANE Select | NP_000386.1:p.Ser426Arg |