Revel Score:
ENST00000263642
0.028
ENST00000543192
0.028
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000074 (EAS)
Exomes Max Group AF
0.00000836 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162277580C>G , CM000664.2:g.162277580C>G | GRCh38 |
| NC_000002.11:g.163134090C>G , CM000664.1:g.163134090C>G | GRCh37 |
| NC_000002.10:g.162842336C>G | NCBI36 |
| NG_011495.1:g.45950G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1476G>C | ENSP00000513228.1:n.*1476G>C | |
| ENST00000648433.1:c.1762G>C | ENSP00000496816.1:p.Glu588Gln | |
| ENST00000649554.1:n.1489G>C | ||
| ENST00000649979.2:c.1879G>C MANE Select | ENSP00000497271.1:p.Glu627Gln | |
| ENST00000679938.1:c.1567G>C | ENSP00000505518.1:p.Glu523Gln | |
| ENST00000263642.2:c.1879G>C | ENSP00000263642.2:p.Glu627Gln | |
| NM_022168.3:c.1879G>C | NP_071451.2:p.Glu627Gln | |
| XM_011511628.1:c.1162G>C | XP_011509930.1:p.Glu388Gln | |
| XM_011511629.1:c.*53G>C | XP_011509931.1:n.*53G>C | |
| NM_022168.4:c.1879G>C MANE Select | NP_071451.2:p.Glu627Gln |