Revel Score:
ENST00000295754 (MANE Select)
0.854
ENST00000359013
0.854
ENST00000439925
0.854
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674228C>T , CM000665.2:g.30674228C>T | GRCh38 |
| NC_000003.11:g.30715720C>T , CM000665.1:g.30715720C>T | GRCh37 |
| NC_000003.10:g.30690724C>T | NCBI36 |
| NG_007490.1:g.72727C>T , LRG_779:g.72727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1378C>T MANE Select | ENSP00000295754.5:p.Arg460Cys | |
| ENST00000672866.1:n.2974C>T | ||
| ENST00000673203.1:n.256C>T | ||
| ENST00000295754.9:c.1378C>T | ENSP00000295754.5:p.Arg460Cys | |
| ENST00000359013.4:c.1453C>T | ENSP00000351905.4:p.Arg485Cys | |
| NM_001024847.2:c.1453C>T , LRG_779t1:c.1453C>T | NP_001020018.1:p.Arg485Cys | |
| NM_003242.5:c.1378C>T | NP_003233.4:p.Arg460Cys | |
| XM_011534043.1:c.1405C>T | XP_011532345.1:p.Arg469Cys | |
| XM_011534044.1:c.1330C>T | XP_011532346.1:p.Arg444Cys | |
| XM_011534045.1:c.1273C>T | XP_011532347.1:p.Arg425Cys | |
| XM_011534043.2:c.1405C>T | XP_011532345.1:p.Arg469Cys | |
| XM_011534045.3:c.1273C>T | XP_011532347.1:p.Arg425Cys | |
| XM_017007106.1:c.1273C>T | XP_016862595.1:p.Arg425Cys | |
| NM_003242.6:c.1378C>T MANE Select | NP_003233.4:p.Arg460Cys |