Revel Score:
ENST00000263642
0.033
ENST00000543192
0.033
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162277580C>T , CM000664.2:g.162277580C>T | GRCh38 |
| NC_000002.11:g.163134090C>T , CM000664.1:g.163134090C>T | GRCh37 |
| NC_000002.10:g.162842336C>T | NCBI36 |
| NG_011495.1:g.45950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1476G>A | ENSP00000513228.1:n.*1476G>A | |
| ENST00000648433.1:c.1762G>A | ENSP00000496816.1:p.Glu588Lys | |
| ENST00000649554.1:n.1489G>A | ||
| ENST00000649979.2:c.1879G>A MANE Select | ENSP00000497271.1:p.Glu627Lys | |
| ENST00000679938.1:c.1567G>A | ENSP00000505518.1:p.Glu523Lys | |
| ENST00000263642.2:c.1879G>A | ENSP00000263642.2:p.Glu627Lys | |
| NM_022168.3:c.1879G>A | NP_071451.2:p.Glu627Lys | |
| XM_011511628.1:c.1162G>A | XP_011509930.1:p.Glu388Lys | |
| XM_011511629.1:c.*53G>A | XP_011509931.1:n.*53G>A | |
| NM_022168.4:c.1879G>A MANE Select | NP_071451.2:p.Glu627Lys |