gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00641661 (NFE)
Genomes Max Group AF
0.00565897 (NFE)
Exomes Max Group AF
0.0064371 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162277580C>A , CM000664.2:g.162277580C>A | GRCh38 |
| NC_000002.11:g.163134090C>A , CM000664.1:g.163134090C>A | GRCh37 |
| NC_000002.10:g.162842336C>A | NCBI36 |
| NG_011495.1:g.45950G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1476G>T | ENSP00000513228.1:n.*1476G>T | |
| ENST00000648433.1:c.1762G>T | ENSP00000496816.1:p.Glu588Ter | |
| ENST00000649554.1:n.1489G>T | ||
| ENST00000649979.2:c.1879G>T MANE Select | ENSP00000497271.1:p.Glu627Ter | |
| ENST00000679938.1:c.1567G>T | ENSP00000505518.1:p.Glu523Ter | |
| ENST00000263642.2:c.1879G>T | ENSP00000263642.2:p.Glu627Ter | |
| NM_022168.3:c.1879G>T | NP_071451.2:p.Glu627Ter | |
| XM_011511628.1:c.1162G>T | XP_011509930.1:p.Glu388Ter | |
| XM_011511629.1:c.*53G>T | XP_011509931.1:n.*53G>T | |
| NM_022168.4:c.1879G>T MANE Select | NP_071451.2:p.Glu627Ter |