gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251206G>T , CM000679.2:g.44251206G>T | GRCh38 |
| NC_000017.10:g.42328574G>T , CM000679.1:g.42328574G>T | GRCh37 |
| NC_000017.9:g.39684100G>T | NCBI36 |
| NG_007498.1:g.21929C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2608C>A MANE Select | ENSP00000262418.6:p.Arg870= | |
| ENST00000262418.10:c.2608C>A | ENSP00000262418.6:p.Arg870= | |
| ENST00000399246.3:c.1510C>A | ENSP00000382190.3:p.Arg504= | |
| NM_000342.3:c.2608C>A | NP_000333.1:p.Arg870= | |
| XM_005257593.3:c.2413C>A | XP_005257650.1:p.Arg805= | |
| XM_011525129.1:c.2518C>A | XP_011523431.1:p.Arg840= | |
| XM_005257593.5:c.2413C>A | XP_005257650.1:p.Arg805= | |
| XM_011525129.2:c.2518C>A | XP_011523431.1:p.Arg840= | |
| NM_000342.4:c.2608C>A MANE Select | NP_000333.1:p.Arg870= |