gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3983435T>A , CM000678.2:g.3983435T>A | GRCh38 |
| NC_000016.9:g.4033436T>A , CM000678.1:g.4033436T>A | GRCh37 |
| NC_000016.8:g.3973437T>A | NCBI36 |
| NG_011434.1:g.137751A>T | |
| NG_011434.2:g.137751A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294016.8:c.2316A>T MANE Select | ENSP00000294016.3:p.Ile772= | |
| ENST00000294016.7:c.2316A>T | ENSP00000294016.3:p.Ile772= | |
| ENST00000574721.1:n.716A>T | ||
| ENST00000575550.5:n.526A>T | ||
| ENST00000576936.5:c.13A>T | ||
| NM_001116.3:c.2316A>T | NP_001107.2:p.Ile772= | |
| XM_005255079.2:c.2373A>T | XP_005255136.1:p.Ile791= | |
| XM_011522353.1:c.2373A>T | XP_011520655.1:p.Ile791= | |
| XM_005255079.3:c.2373A>T | XP_005255136.1:p.Ile791= | |
| XM_011522353.2:c.2373A>T | XP_011520655.1:p.Ile791= | |
| NM_001116.4:c.2316A>T MANE Select | NP_001107.2:p.Ile772= |