Revel Score:
ENST00000376203
0.188
ENST00000376215 (MANE Select)
0.596
ENST00000396343
0.596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26746333A>C , CM000672.2:g.26746333A>C | GRCh38 |
| NC_000010.10:g.27035262A>C , CM000672.1:g.27035262A>C | GRCh37 |
| NC_000010.9:g.27075268A>C | NCBI36 |
| NG_008972.1:g.53668A>C | |
| NG_030025.1:g.119755T>G | |
| NG_008972.2:g.53668A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.1108A>C MANE Select | ENSP00000365388.5:p.Ser370Arg | |
| ENST00000376215.9:c.1108A>C | ENSP00000365388.5:p.Ser370Arg | |
| ENST00000470978.1:n.350A>C | ||
| ENST00000491711.5:c.689A>C | ||
| NM_014317.3:c.1108A>C | NP_055132.2:p.Ser370Arg | |
| XM_005252439.2:c.598A>C | XP_005252496.1:p.Ser200Arg | |
| XM_011519437.1:c.739A>C | XP_011517739.1:p.Ser247Arg | |
| XR_428636.2:n.1400A>C | ||
| NM_001321978.1:c.917A>C | NP_001308907.1:p.Glu306Ala | |
| NM_001321979.1:c.598A>C | NP_001308908.1:p.Ser200Arg | |
| NM_014317.4:c.1108A>C | NP_055132.2:p.Ser370Arg | |
| XM_011519437.3:c.739A>C | XP_011517739.1:p.Ser247Arg | |
| XM_017016011.2:c.787A>C | XP_016871500.1:p.Ser263Arg | |
| XM_024447923.1:c.598A>C | XP_024303691.1:p.Ser200Arg | |
| XR_428636.4:n.1400A>C | ||
| NM_014317.5:c.1108A>C MANE Select | NP_055132.2:p.Ser370Arg | |
| NM_001321978.2:c.917A>C | NP_001308907.1:p.Glu306Ala | |
| NM_001321979.2:c.598A>C | NP_001308908.1:p.Ser200Arg |