ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000427355
0.387
ENST00000351698 (MANE Select)
0.387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814108C>A , CM000671.2:g.129814108C>A | GRCh38 |
| NC_000009.11:g.132576387C>A , CM000671.1:g.132576387C>A | GRCh37 |
| NC_000009.10:g.131616208C>A | NCBI36 |
| NG_008049.1:g.15055G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.863G>T MANE Select | ENSP00000345719.4:p.Arg288Leu | |
| ENST00000651202.1:c.*131G>T | ENSP00000498222.1:n.*131G>T | |
| ENST00000351698.4:c.863G>T | ENSP00000345719.4:p.Arg288Leu | |
| ENST00000474192.1:n.447G>T | ||
| NM_000113.2:c.863G>T | NP_000104.1:p.Arg288Leu | |
| XR_929731.1:n.1190G>T | ||
| XR_929731.3:n.1058G>T | ||
| NM_000113.3:c.863G>T MANE Select | NP_000104.1:p.Arg288Leu |