gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000301 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00002846 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88427489C>T , CM000678.2:g.88427489C>T | GRCh38 |
| NC_000016.9:g.88493897C>T , CM000678.1:g.88493897C>T | GRCh37 |
| NC_000016.8:g.87021398C>T | NCBI36 |
| NG_012236.2:g.5019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565624.3:c.19C>T MANE Select | ENSP00000456500.2:p.Arg7Ter | |
| ENST00000437464.1:c.19C>T | ENSP00000402343.1:p.Arg7Ter | |
| ENST00000565624.1:c.19C>T | ENSP00000456500.1:p.Arg7Ter | |
| NM_001127464.2:c.19C>T | NP_001120936.2:p.Arg7Ter | |
| XM_011523386.1:c.19C>T | XP_011521688.1:p.Arg7Ter | |
| XM_011523387.1:c.19C>T | XP_011521689.1:p.Arg7Ter | |
| XM_011523388.1:c.19C>T | XP_011521690.1:p.Arg7Ter | |
| XM_017023784.1:c.19C>T | XP_016879273.1:p.Arg7Ter | |
| XM_017023785.1:c.19C>T | XP_016879274.1:p.Arg7Ter | |
| XR_002957934.1:n.250+2475G>A | ||
| NM_001367624.1:c.19C>T | NP_001354553.1:p.Arg7Ter | |
| NM_001367624.2:c.19C>T MANE Select | NP_001354553.1:p.Arg7Ter |