Revel Score:
ENST00000535115
0.924
ENST00000253577
0.924
ENST00000339447
0.924
ENST00000373394 (MANE Select)
0.924
ENST00000529949
0.924
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75070433C>T , CM000685.2:g.75070433C>T | GRCh38 |
| NC_000023.10:g.74290268C>T , CM000685.1:g.74290268C>T | GRCh37 |
| NC_000023.9:g.74206993C>T | NCBI36 |
| NG_007980.1:g.90865G>A | |
| NG_007980.3:g.90851G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253577.9:c.1300G>A | ENSP00000253577.3:p.Glu434Lys | |
| ENST00000373394.8:c.1297G>A MANE Select | ENSP00000362492.3:p.Glu433Lys | |
| ENST00000620875.5:c.1180G>A | ENSP00000479985.1:p.Glu394Lys | |
| ENST00000644766.1:c.1300G>A | ENSP00000493713.1:p.Glu434Lys | |
| ENST00000645829.3:c.1312G>A | ENSP00000496526.2:p.Glu438Lys | |
| ENST00000663420.1:n.1217G>A | ||
| ENST00000666534.1:n.1187G>A | ||
| ENST00000669388.1:n.1158G>A | ||
| ENST00000669573.1:c.1120G>A | ENSP00000499543.1:p.Glu374Lys | |
| ENST00000253577.7:c.1300G>A | ENSP00000253577.3:p.Glu434Lys | |
| ENST00000339447.8:c.1177G>A | ENSP00000343849.4:p.Glu393Lys | |
| ENST00000373394.7:c.1297G>A | ENSP00000362492.3:p.Glu433Lys | |
| ENST00000469368.1:n.163G>A | ||
| ENST00000529949.5:c.1219G>A | ENSP00000436586.1:p.Glu407Lys | |
| ENST00000534570.5:n.409G>A | ||
| ENST00000620875.4:c.1180G>A | ENSP00000479985.1:p.Glu394Lys | |
| NM_001271696.1:c.1297G>A | NP_001258625.1:p.Glu433Lys | |
| NM_001271697.1:c.1177G>A | NP_001258626.1:p.Glu393Lys | |
| NM_001271698.1:c.1219G>A | NP_001258627.1:p.Glu407Lys | |
| NM_001271699.1:c.1180G>A | NP_001258628.1:p.Glu394Lys | |
| NM_004299.4:c.1300G>A | NP_004290.2:p.Glu434Lys | |
| NM_001271696.2:c.1297G>A | NP_001258625.1:p.Glu433Lys | |
| NM_001271697.2:c.1177G>A | NP_001258626.1:p.Glu393Lys | |
| NM_001271698.2:c.1219G>A | NP_001258627.1:p.Glu407Lys | |
| NM_001271699.2:c.1180G>A | NP_001258628.1:p.Glu394Lys | |
| NM_004299.6:c.1300G>A | NP_004290.2:p.Glu434Lys | |
| NM_001271696.3:c.1297G>A MANE Select | NP_001258625.1:p.Glu433Lys | |
| NM_001271697.3:c.1177G>A | NP_001258626.1:p.Glu393Lys | |
| NM_001271698.3:c.1219G>A | NP_001258627.1:p.Glu407Lys | |
| NM_001271699.3:c.1180G>A | NP_001258628.1:p.Glu394Lys |