gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000257 (NFE)
Exomes Max Group AF
0.00000273 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974720G>T , CM000669.2:g.150974720G>T | GRCh38 |
| NC_000007.13:g.150671808G>T , CM000669.1:g.150671808G>T | GRCh37 |
| NC_000007.12:g.150302741G>T | NCBI36 |
| NG_008916.1:g.8207C>A , LRG_288:g.8207C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.298C>A MANE Select | ENSP00000262186.5:p.Arg100= | |
| ENST00000262186.9:c.298C>A | ENSP00000262186.5:p.Arg100= | |
| ENST00000430723.4:c.121C>A | ENSP00000387657.4:p.Arg41= | |
| ENST00000532957.5:n.521C>A | ||
| NM_000238.3:c.298C>A , LRG_288t1:c.298C>A | NP_000229.1:p.Arg100= | |
| NM_172056.2:c.298C>A , LRG_288t2:c.298C>A | NP_742053.1:p.Arg100= | |
| XM_011516186.1:c.298C>A | XP_011514488.1:p.Arg100= | |
| XM_011516186.3:c.298C>A | XP_011514488.1:p.Arg100= | |
| XM_017012196.1:c.121C>A | XP_016867685.1:p.Arg41= | |
| NM_000238.4:c.298C>A MANE Select | NP_000229.1:p.Arg100= |