ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000893 (NFE)
Exomes Max Group AF
0.00000949 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48898785G>A , CM000665.2:g.48898785G>A | GRCh38 |
| NC_000003.11:g.48936218G>A , CM000665.1:g.48936218G>A | GRCh37 |
| NC_000003.10:g.48911222G>A | NCBI36 |
| NG_008171.1:g.5112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.10C>T MANE Select | ENSP00000326305.4:p.Gln4Ter | |
| ENST00000319017.4:c.10C>T | ENSP00000326305.4:p.Gln4Ter | |
| ENST00000430379.5:c.10C>T | ENSP00000388986.1:p.Gln4Ter | |
| ENST00000440964.1:c.10C>T | ENSP00000388563.1:p.Gln4Ter | |
| NM_000387.5:c.10C>T | NP_000378.1:p.Gln4Ter | |
| XM_006713327.1:c.10C>T | XP_006713390.1:p.Gln4Ter | |
| NM_000387.6:c.10C>T MANE Select | NP_000378.1:p.Gln4Ter |