Revel Score:
ENST00000295897 (MANE Select)
0.522
ENST00000415165
0.522
ENST00000329326
0.522
ENST00000503124
0.522
ENST00000509063
0.522
ENST00000401494
0.522
ENST00000430202
0.522
ENST00000511370
0.062
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73419613G>T , CM000666.2:g.73419613G>T | GRCh38 |
| NC_000004.11:g.74285330G>T , CM000666.1:g.74285330G>T | GRCh37 |
| NC_000004.10:g.74504194G>T | NCBI36 |
| NG_009291.1:g.20359G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1759G>T MANE Select | ENSP00000295897.4:p.Asp587Tyr | |
| ENST00000295897.8:c.1759G>T | ENSP00000295897.4:p.Asp587Tyr | |
| ENST00000401494.7:c.1414G>T | ENSP00000384695.3:p.Asp472Tyr | |
| ENST00000415165.6:c.1183G>T | ENSP00000401820.2:p.Asp395Tyr | |
| ENST00000476441.6:c.*1038G>T | ENSP00000423727.1:n.*1038G>T | |
| ENST00000495173.1:n.67G>T | ||
| ENST00000503124.5:c.1309G>T | ENSP00000421027.1:p.Asp437Tyr | |
| ENST00000505649.5:n.1306G>T | ||
| ENST00000508932.5:n.175+158G>T | ||
| ENST00000509063.5:c.1759G>T | ENSP00000422784.1:p.Asp587Tyr | |
| ENST00000511370.1:c.1292G>T | ||
| ENST00000621085.4:c.1120G>T | ENSP00000483421.1:p.Asp374Tyr | |
| ENST00000621628.4:c.1120G>T | ENSP00000480485.1:p.Asp374Tyr | |
| NM_000477.5:c.1759G>T | NP_000468.1:p.Asp587Tyr | |
| NM_000477.6:c.1759G>T | NP_000468.1:p.Asp587Tyr | |
| NM_000477.7:c.1759G>T MANE Select | NP_000468.1:p.Asp587Tyr |