Revel Score:
ENST00000295408 (MANE Select)
0.043
ENST00000421804
0.043
ENST00000393237
0.043
ENST00000409780
0.043
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111994351G>C , CM000664.2:g.111994351G>C | GRCh38 |
| NC_000002.11:g.112751928G>C , CM000664.1:g.112751928G>C | GRCh37 |
| NC_000002.10:g.112468399G>C | NCBI36 |
| NG_011607.1:g.100738G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.1397G>C MANE Select | ENSP00000295408.4:p.Arg466Thr | |
| ENST00000295408.8:c.1397G>C | ENSP00000295408.4:p.Arg466Thr | |
| ENST00000409780.5:c.869G>C | ENSP00000387277.1:p.Arg290Thr | |
| ENST00000421804.6:c.1397G>C | ENSP00000389152.2:p.Arg466Thr | |
| ENST00000439966.5:c.*870G>C | ENSP00000402129.1:n.*870G>C | |
| ENST00000616902.4:c.182G>C | ENSP00000482824.1:p.Arg61Thr | |
| NM_006343.2:c.1397G>C | NP_006334.2:p.Arg466Thr | |
| XM_005263565.3:c.1397G>C | XP_005263622.1:p.Arg466Thr | |
| XM_005263568.3:c.1397G>C | XP_005263625.1:p.Arg466Thr | |
| XM_011510490.1:c.1208G>C | XP_011508792.1:p.Arg403Thr | |
| XM_011510491.1:c.182G>C | XP_011508793.1:p.Arg61Thr | |
| XM_005263565.4:c.1397G>C | XP_005263622.1:p.Arg466Thr | |
| XM_005263568.4:c.1397G>C | XP_005263625.1:p.Arg466Thr | |
| XM_011510490.3:c.1208G>C | XP_011508792.1:p.Arg403Thr | |
| XM_017003164.1:c.1208G>C | XP_016858653.1:p.Arg403Thr | |
| XM_017003165.2:c.182G>C | XP_016858654.1:p.Arg61Thr | |
| NM_006343.3:c.1397G>C MANE Select | NP_006334.2:p.Arg466Thr |