Revel Score:
ENST00000295897 (MANE Select)
0.358
ENST00000415165
0.358
ENST00000329326
0.358
ENST00000509063
0.358
ENST00000401494
0.358
ENST00000430202
0.358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404333G>T , CM000666.2:g.73404333G>T | GRCh38 |
| NC_000004.11:g.74270050G>T , CM000666.1:g.74270050G>T | GRCh37 |
| NC_000004.10:g.74488914G>T | NCBI36 |
| NG_009291.1:g.5079G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.6G>T MANE Select | ENSP00000295897.4:p.Lys2Asn | |
| ENST00000295897.8:c.6G>T | ENSP00000295897.4:p.Lys2Asn | |
| ENST00000401494.7:c.6G>T | ENSP00000384695.3:p.Lys2Asn | |
| ENST00000415165.6:c.6G>T | ENSP00000401820.2:p.Lys2Asn | |
| ENST00000441319.5:c.48-36G>T | ENSP00000392541.1:n.48-36G>T | |
| ENST00000476441.6:c.6G>T | ENSP00000423727.1:p.Lys2Asn | |
| ENST00000503124.5:c.-175G>T | ENSP00000421027.1:n.-175G>T | |
| ENST00000509063.5:c.6G>T | ENSP00000422784.1:p.Lys2Asn | |
| ENST00000510166.5:n.47G>T | ||
| ENST00000514786.1:n.45G>T | ||
| ENST00000515133.5:n.47G>T | ||
| ENST00000621085.4:c.6G>T | ENSP00000483421.1:p.Lys2Asn | |
| ENST00000621628.4:c.6G>T | ENSP00000480485.1:p.Lys2Asn | |
| NM_000477.5:c.6G>T | NP_000468.1:p.Lys2Asn | |
| NM_000477.6:c.6G>T | NP_000468.1:p.Lys2Asn | |
| NM_000477.7:c.6G>T MANE Select | NP_000468.1:p.Lys2Asn |