Revel Score:
ENST00000252242 (MANE Select)
0.940
ENST00000456000
0.940
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517702A>G , CM000674.2:g.52517702A>G | GRCh38 |
| NC_000012.11:g.52911486A>G , CM000674.1:g.52911486A>G | GRCh37 |
| NC_000012.10:g.51197753A>G | NCBI36 |
| NG_008297.1:g.7758T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.980T>C MANE Select | ENSP00000252242.4:p.Met327Thr | |
| ENST00000252242.8:c.980T>C | ENSP00000252242.4:p.Met327Thr | |
| ENST00000547890.5:n.109T>C | ||
| ENST00000548409.5:c.102T>C | ||
| ENST00000549511.5:n.187T>C | ||
| ENST00000551013.1:n.618T>C | ||
| ENST00000551188.5:c.423T>C | ||
| ENST00000552629.5:n.1078T>C | ||
| NM_000424.3:c.980T>C | NP_000415.2:p.Met327Thr | |
| NM_000424.4:c.980T>C MANE Select | NP_000415.2:p.Met327Thr |