Revel Score:
ENST00000361216 (MANE Select)
0.949
ENST00000392233
0.949
ENST00000435866
0.949
ENST00000447527
0.898
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139735C>T , CM000663.2:g.160139735C>T | GRCh38 |
| NC_000001.10:g.160109525C>T , CM000663.1:g.160109525C>T | GRCh37 |
| NC_000001.9:g.158376149C>T | NCBI36 |
| NG_008014.1:g.28978C>T , LRG_6:g.28978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.2936C>T MANE Select | ENSP00000354490.3:p.Pro979Leu | |
| ENST00000361216.7:c.2936C>T | ENSP00000354490.3:p.Pro979Leu | |
| ENST00000392233.7:c.2936C>T | ENSP00000376066.3:p.Pro979Leu | |
| ENST00000447527.1:c.2017C>T | ||
| ENST00000463989.1:n.272C>T | ||
| NM_000702.3:c.2936C>T | NP_000693.1:p.Pro979Leu | |
| NM_000702.4:c.2936C>T MANE Select | NP_000693.1:p.Pro979Leu |