Revel Score:
ENST00000448451
0.177
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141524167G>A , CM000667.2:g.141524167G>A | GRCh38 |
| NC_000005.9:g.140903734G>A , CM000667.1:g.140903734G>A | GRCh37 |
| NC_000005.8:g.140883918G>A | NCBI36 |
| NG_011594.1:g.99889C>T | |
| NG_011594.2:g.99889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.3637C>T MANE Select | ENSP00000373706.4:p.Arg1213Ter | |
| ENST00000448451.6:c.43C>T | ENSP00000408159.2:p.Arg15Ter | |
| ENST00000643312.1:c.43C>T | ENSP00000495191.1:p.Arg15Ter | |
| ENST00000643718.1:n.117C>T | ||
| ENST00000647433.1:c.3637C>T | ENSP00000494675.1:p.Arg1213Ter | |
| ENST00000253811.10:c.3505C>T | ENSP00000253811.7:p.Arg1169Ter | |
| ENST00000389054.7:c.3637C>T | ENSP00000373706.4:p.Arg1213Ter | |
| ENST00000389057.9:c.3610C>T | ENSP00000373709.6:p.Arg1204Ter | |
| ENST00000398557.8:c.3637C>T | ENSP00000381565.5:p.Arg1213Ter | |
| ENST00000448451.5:c.173C>T | ||
| ENST00000468119.3:n.158C>T | ||
| ENST00000476339.1:n.589C>T | ||
| ENST00000518047.5:c.3610C>T | ENSP00000428268.2:p.Arg1204Ter | |
| NM_001079812.2:c.3610C>T | NP_001073280.1:p.Arg1204Ter | |
| NM_001314007.1:c.3637C>T | NP_001300936.1:p.Arg1213Ter | |
| NM_005219.4:c.3637C>T | NP_005210.3:p.Arg1213Ter | |
| XM_011537572.1:c.3601C>T | XP_011535874.1:p.Arg1201Ter | |
| XM_011537573.1:c.3571C>T | XP_011535875.1:p.Arg1191Ter | |
| XM_024454384.1:c.3760C>T | XP_024310152.1:p.Arg1254Ter | |
| XM_024454385.1:c.3733C>T | XP_024310153.1:p.Arg1245Ter | |
| XM_024454386.1:c.3724C>T | XP_024310154.1:p.Arg1242Ter | |
| XM_024454387.1:c.3694C>T | XP_024310155.1:p.Arg1232Ter | |
| NM_005219.5:c.3637C>T MANE Select | NP_005210.3:p.Arg1213Ter | |
| NM_001079812.3:c.3610C>T | NP_001073280.1:p.Arg1204Ter | |
| NM_001314007.2:c.3637C>T | NP_001300936.1:p.Arg1213Ter |