gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00151485 (NFE)
Genomes Max Group AF
0.00104813 (NFE)
Exomes Max Group AF
0.00153116 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917101G>C , CM000674.2:g.102917101G>C | GRCh38 |
| NC_000012.11:g.103310879G>C , CM000674.1:g.103310879G>C | GRCh37 |
| NC_000012.10:g.101835009G>C | NCBI36 |
| NG_008690.1:g.5502C>G | |
| NG_008690.2:g.46310C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.30C>G MANE Select | ENSP00000448059.1:p.Gly10= | |
| ENST00000307000.7:c.-118C>G | ENSP00000303500.2:n.-118C>G | |
| ENST00000546844.1:c.30C>G | ENSP00000446658.1:p.Gly10= | |
| ENST00000547319.1:n.341C>G | ||
| ENST00000549111.5:n.126C>G | ||
| ENST00000550978.6:c.14C>G | ||
| ENST00000551337.5:c.30C>G | ENSP00000447620.1:p.Gly10= | |
| ENST00000551988.5:n.119C>G | ||
| ENST00000553106.5:c.30C>G | ENSP00000448059.1:p.Gly10= | |
| ENST00000635500.1:n.29-4203C>G | ||
| NM_000277.1:c.30C>G | NP_000268.1:p.Gly10= | |
| XM_011538422.1:c.30C>G | XP_011536724.1:p.Gly10= | |
| NM_000277.2:c.30C>G | NP_000268.1:p.Gly10= | |
| NM_001354304.1:c.30C>G | NP_001341233.1:p.Gly10= | |
| XM_017019370.2:c.30C>G | XP_016874859.1:p.Gly10= | |
| NM_000277.3:c.30C>G MANE Select | NP_000268.1:p.Gly10= | |
| NM_001354304.2:c.30C>G | NP_001341233.1:p.Gly10= |