gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31522123G>A , CM000680.2:g.31522123G>A | GRCh38 |
| NC_000018.9:g.29102086G>A , CM000680.1:g.29102086G>A | GRCh37 |
| NC_000018.8:g.27356084G>A | NCBI36 |
| NG_007072.3:g.28882G>A , LRG_397:g.28882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.395G>A | ||
| ENST00000682241.2:c.564G>A | ENSP00000507600.2:p.Glu188= | |
| ENST00000683614.2:n.395G>A | ||
| ENST00000682087.1:c.395G>A | ||
| ENST00000682241.1:c.395G>A | ||
| ENST00000683614.1:c.395G>A | ||
| ENST00000683654.1:c.564G>A | ENSP00000506971.1:p.Glu188= | |
| ENST00000684461.1:n.1234G>A | ||
| ENST00000261590.13:c.564G>A MANE Select | ENSP00000261590.8:p.Glu188= | |
| ENST00000261590.12:c.564G>A | ENSP00000261590.8:p.Glu188= | |
| ENST00000585206.1:c.564G>A | ENSP00000462503.1:p.Glu188= | |
| NM_001943.3:c.564G>A , LRG_397t1:c.564G>A | NP_001934.2:p.Glu188= | |
| NM_001943.4:c.564G>A | NP_001934.2:p.Glu188= | |
| XM_024451095.1:c.30G>A | XP_024306863.1:p.Glu10= | |
| NM_001943.5:c.564G>A MANE Select | NP_001934.2:p.Glu188= |