COSMIC:
COSM6331560 (not active)
COSM6331561 (not active)
COSM6331562 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06448632 (AFR)
Genomes Max Group AF
0.0645928 (AFR)
Exomes Max Group AF
0.06294699 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.154727817G>A , CM000669.2:g.154727817G>A | GRCh38 |
| NC_000007.13:g.154519527G>A , CM000669.1:g.154519527G>A | GRCh37 |
| NC_000007.12:g.154150460G>A | NCBI36 |
| NG_033878.1:g.845484G>A | |
| NG_033878.2:g.984832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.630G>A | ENSP00000516215.1:p.Gln210= | |
| ENST00000706151.1:c.-163G>A | ENSP00000516234.1:n.-163G>A | |
| ENST00000706153.1:n.459G>A | ||
| ENST00000377770.8:c.813G>A MANE Select | ENSP00000367001.3:p.Gln271= | |
| ENST00000332007.7:c.627G>A | ENSP00000328226.3:p.Gln209= | |
| ENST00000377770.7:c.813G>A | ENSP00000367001.3:p.Gln271= | |
| ENST00000404039.5:c.621G>A | ENSP00000385578.1:p.Gln207= | |
| ENST00000427557.1:c.492G>A | ENSP00000397303.1:p.Gln164= | |
| NM_001039350.2:c.621G>A | NP_001034439.1:p.Gln207= | |
| NM_001290252.1:c.492G>A | NP_001277181.1:p.Gln164= | |
| NM_001936.4:c.627G>A | NP_001927.3:p.Gln209= | |
| NM_130797.3:c.813G>A | NP_570629.2:p.Gln271= | |
| XM_011515865.1:c.621G>A | XP_011514167.1:p.Gln207= | |
| XM_011515866.1:c.189G>A | XP_011514168.1:p.Gln63= | |
| NM_001364497.1:c.630G>A | NP_001351426.1:p.Gln210= | |
| NM_001364498.1:c.630G>A | NP_001351427.1:p.Gln210= | |
| NM_001364499.1:c.630G>A | NP_001351428.1:p.Gln210= | |
| NM_001364500.1:c.630G>A | NP_001351429.1:p.Gln210= | |
| NM_001364501.1:c.621G>A | NP_001351430.1:p.Gln207= | |
| NR_157195.1:n.1263G>A | ||
| NR_157196.1:n.963G>A | ||
| XM_017011812.2:c.189G>A | XP_016867301.1:p.Gln63= | |
| NM_130797.4:c.813G>A MANE Select | NP_570629.2:p.Gln271= | |
| NM_001039350.3:c.621G>A | NP_001034439.1:p.Gln207= | |
| NM_001290252.2:c.492G>A | NP_001277181.1:p.Gln164= | |
| NM_001364497.2:c.630G>A | NP_001351426.1:p.Gln210= | |
| NM_001364498.2:c.630G>A | NP_001351427.1:p.Gln210= | |
| NM_001364499.2:c.630G>A | NP_001351428.1:p.Gln210= | |
| NM_001364500.2:c.630G>A | NP_001351429.1:p.Gln210= | |
| NM_001936.5:c.627G>A | NP_001927.3:p.Gln209= | |
| NR_157196.2:n.963G>A | ||
| NM_001364501.2:c.621G>A | NP_001351430.1:p.Gln207= | |
| NR_157195.2:n.1263G>A |