Revel Score:
ENST00000295897 (MANE Select)
0.269
ENST00000415165
0.269
ENST00000503124
0.269
ENST00000509063
0.269
ENST00000401494
0.269
ENST00000430202
0.269
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413476G>T , CM000666.2:g.73413476G>T | GRCh38 |
| NC_000004.11:g.74279193G>T , CM000666.1:g.74279193G>T | GRCh37 |
| NC_000004.10:g.74498057G>T | NCBI36 |
| NG_009291.1:g.14222G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.900G>T MANE Select | ENSP00000295897.4:p.Lys300Asn | |
| ENST00000295897.8:c.900G>T | ENSP00000295897.4:p.Lys300Asn | |
| ENST00000401494.7:c.555G>T | ENSP00000384695.3:p.Lys185Asn | |
| ENST00000415165.6:c.324G>T | ENSP00000401820.2:p.Lys108Asn | |
| ENST00000476441.6:c.*179G>T | ENSP00000423727.1:n.*179G>T | |
| ENST00000484992.1:n.220G>T | ||
| ENST00000503124.5:c.450G>T | ENSP00000421027.1:p.Lys150Asn | |
| ENST00000505649.5:n.586G>T | ||
| ENST00000509063.5:c.900G>T | ENSP00000422784.1:p.Lys300Asn | |
| ENST00000511370.1:c.433G>T | ||
| ENST00000621085.4:c.491-1630G>T | ENSP00000483421.1:n.491-1630G>T | |
| ENST00000621628.4:c.487-1626G>T | ENSP00000480485.1:n.487-1626G>T | |
| NM_000477.5:c.900G>T | NP_000468.1:p.Lys300Asn | |
| NM_000477.6:c.900G>T | NP_000468.1:p.Lys300Asn | |
| NM_000477.7:c.900G>T MANE Select | NP_000468.1:p.Lys300Asn |