Revel Score:
ENST00000299155 (MANE Select)
0.336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102923789C>A , CM000676.2:g.102923789C>A | GRCh38 |
| NC_000014.8:g.103390126C>A , CM000676.1:g.103390126C>A | GRCh37 |
| NC_000014.7:g.102459879C>A | NCBI36 |
| NG_008276.2:g.6134C>A , LRG_642:g.6134C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.122C>A MANE Select | ENSP00000299155.6:p.Thr41Asn | |
| ENST00000299155.9:c.122C>A | ENSP00000299155.5:p.Thr41Asn | |
| ENST00000541086.5:n.868C>A | ||
| NM_030943.3:c.122C>A , LRG_642t1:c.122C>A | NP_112205.2:p.Thr41Asn | |
| XM_011537202.1:c.-41C>A | XP_011535504.1:n.-41C>A | |
| XM_011537203.1:c.-41C>A | XP_011535505.1:n.-41C>A | |
| XM_011537202.3:c.-41C>A | XP_011535504.1:n.-41C>A | |
| XM_011537203.3:c.-41C>A | XP_011535505.1:n.-41C>A | |
| XM_024449714.1:c.218C>A | XP_024305482.1:p.Thr73Asn | |
| NM_030943.4:c.122C>A MANE Select | NP_112205.2:p.Thr41Asn |