Revel Score:
ENST00000306801 (MANE Select)
0.268
ENST00000544334
0.268
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80891747G>A , CM000679.2:g.80891747G>A | GRCh38 |
| NC_000017.10:g.78865547G>A , CM000679.1:g.78865547G>A | GRCh37 |
| NC_000017.9:g.76480142G>A | NCBI36 |
| NG_013034.1:g.351923G>A | |
| NG_013034.2:g.351923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697423.1:c.2065G>A | ENSP00000513305.1:p.Val689Met | |
| ENST00000306801.8:c.2011G>A MANE Select | ENSP00000307272.3:p.Val671Met | |
| ENST00000306801.7:c.2011G>A | ENSP00000307272.3:p.Val671Met | |
| ENST00000544334.6:c.1537G>A | ENSP00000442479.2:p.Val513Met | |
| ENST00000575542.5:n.1498G>A | ||
| ENST00000577161.5:n.2810G>A | ||
| NM_001163034.1:c.1537G>A | NP_001156506.1:p.Val513Met | |
| NM_020761.2:c.2011G>A | NP_065812.1:p.Val671Met | |
| NM_020761.3:c.2011G>A MANE Select | NP_065812.1:p.Val671Met | |
| NM_001163034.2:c.1537G>A | NP_001156506.1:p.Val513Met |