gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002666 (NFE)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00002712 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728369C>T , CM000678.2:g.3728369C>T | GRCh38 |
| NC_000016.9:g.3778370C>T , CM000678.1:g.3778370C>T | GRCh37 |
| NC_000016.8:g.3718371C>T | NCBI36 |
| NG_009873.1:g.156752G>A | |
| NG_009873.2:g.157345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6678G>A MANE Select | ENSP00000262367.5:p.Ala2226= | |
| ENST00000262367.9:c.6678G>A | ENSP00000262367.5:p.Ala2226= | |
| ENST00000382070.7:c.6564G>A | ENSP00000371502.3:p.Ala2188= | |
| NM_001079846.1:c.6564G>A | NP_001073315.1:p.Ala2188= | |
| NM_004380.2:c.6678G>A | NP_004371.2:p.Ala2226= | |
| XM_005255124.3:c.6633G>A | XP_005255181.1:p.Ala2211= | |
| XM_005255125.3:c.6261G>A | XP_005255182.1:p.Ala2087= | |
| XM_006720848.2:c.6417G>A | XP_006720911.1:p.Ala2139= | |
| XM_011522380.1:c.6624G>A | XP_011520682.1:p.Ala2208= | |
| XM_011522381.1:c.5925G>A | XP_011520683.1:p.Ala1975= | |
| XM_005255124.4:c.6633G>A | XP_005255181.1:p.Ala2211= | |
| XM_005255125.4:c.6261G>A | XP_005255182.1:p.Ala2087= | |
| XM_006720848.3:c.6417G>A | XP_006720911.1:p.Ala2139= | |
| XM_011522381.2:c.5925G>A | XP_011520683.1:p.Ala1975= | |
| XM_017022944.1:c.6672G>A | XP_016878433.1:p.Ala2224= | |
| NM_004380.3:c.6678G>A MANE Select | NP_004371.2:p.Ala2226= |