Revel Score:
ENST00000428762 (MANE Select)
0.619
ENST00000343529
0.619
ENST00000424685
0.619
ENST00000448171
0.619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103636325C>T , CM000669.2:g.103636325C>T | GRCh38 |
| NC_000007.13:g.103276772C>T , CM000669.1:g.103276772C>T | GRCh37 |
| NC_000007.12:g.103064008C>T | NCBI36 |
| NG_011877.1:g.358192G>A | |
| NG_011877.2:g.358192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.2213G>A | ENSP00000388446.3:p.Cys738Tyr | |
| ENST00000428762.6:c.2213G>A MANE Select | ENSP00000392423.1:p.Cys738Tyr | |
| ENST00000473457.2:n.2477G>A | ||
| ENST00000679867.1:n.2097G>A | ||
| ENST00000680712.1:n.1930G>A | ||
| ENST00000681034.1:c.2213G>A | ENSP00000506075.1:p.Cys738Tyr | |
| ENST00000343529.9:c.2213G>A | ENSP00000345694.5:p.Cys738Tyr | |
| ENST00000424685.2:c.2213G>A | ENSP00000388446.2:p.Cys738Tyr | |
| ENST00000428762.5:c.2213G>A | ENSP00000392423.1:p.Cys738Tyr | |
| NM_005045.3:c.2213G>A | NP_005036.2:p.Cys738Tyr | |
| NM_173054.2:c.2213G>A | NP_774959.1:p.Cys738Tyr | |
| NM_005045.4:c.2213G>A MANE Select | NP_005036.2:p.Cys738Tyr | |
| NM_173054.3:c.2213G>A | NP_774959.1:p.Cys738Tyr |