Revel Score:
ENST00000295897 (MANE Select)
0.524
ENST00000415165
0.524
ENST00000329326
0.524
ENST00000503124
0.524
ENST00000509063
0.524
ENST00000401494
0.524
ENST00000430202
0.524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415108G>A , CM000666.2:g.73415108G>A | GRCh38 |
| NC_000004.11:g.74280825G>A , CM000666.1:g.74280825G>A | GRCh37 |
| NC_000004.10:g.74499689G>A | NCBI36 |
| NG_009291.1:g.15854G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1132G>A MANE Select | ENSP00000295897.4:p.Glu378Lys | |
| ENST00000295897.8:c.1132G>A | ENSP00000295897.4:p.Glu378Lys | |
| ENST00000401494.7:c.787G>A | ENSP00000384695.3:p.Glu263Lys | |
| ENST00000415165.6:c.556G>A | ENSP00000401820.2:p.Glu186Lys | |
| ENST00000476441.6:c.*411G>A | ENSP00000423727.1:n.*411G>A | |
| ENST00000484992.1:n.452G>A | ||
| ENST00000503124.5:c.682G>A | ENSP00000421027.1:p.Glu228Lys | |
| ENST00000504043.1:n.135G>A | ||
| ENST00000505649.5:n.818G>A | ||
| ENST00000509063.5:c.1132G>A | ENSP00000422784.1:p.Glu378Lys | |
| ENST00000511370.1:c.665G>A | ||
| ENST00000621085.4:c.493G>A | ENSP00000483421.1:p.Glu165Lys | |
| ENST00000621628.4:c.493G>A | ENSP00000480485.1:p.Glu165Lys | |
| NM_000477.5:c.1132G>A | NP_000468.1:p.Glu378Lys | |
| NM_000477.6:c.1132G>A | NP_000468.1:p.Glu378Lys | |
| NM_000477.7:c.1132G>A MANE Select | NP_000468.1:p.Glu378Lys |