gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16185012G>T , CM000678.2:g.16185012G>T | GRCh38 |
| NC_000016.9:g.16278869G>T , CM000678.1:g.16278869G>T | GRCh37 |
| NC_000016.8:g.16186370G>T | NCBI36 |
| NG_007558.2:g.43460C>A | |
| NG_007558.3:g.43606C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.1890C>A | ENSP00000483331.2:p.Thr630= | |
| ENST00000205557.12:c.1890C>A MANE Select | ENSP00000205557.7:p.Thr630= | |
| ENST00000205557.11:c.1890C>A | ENSP00000205557.7:p.Thr630= | |
| ENST00000456970.6:c.1890C>A | ENSP00000405002.2:p.Thr630= | |
| ENST00000574094.5:n.1986C>A | ||
| ENST00000622290.4:c.1890C>A | ENSP00000483331.1:p.Thr630= | |
| NM_001171.5:c.1890C>A | NP_001162.4:p.Thr630= | |
| XM_011522479.1:c.1890C>A | XP_011520781.1:p.Thr630= | |
| XM_011522480.1:c.1548C>A | XP_011520782.1:p.Thr516= | |
| XM_011522481.1:c.1548C>A | XP_011520783.1:p.Thr516= | |
| XM_011522482.1:c.1890C>A | XP_011520784.1:p.Thr630= | |
| XR_932836.1:n.2125C>A | ||
| XR_932837.1:n.2126C>A | ||
| XR_932838.1:n.2126C>A | ||
| NM_001351800.1:c.1548C>A | NP_001338729.1:p.Thr516= | |
| NR_147784.1:n.1927C>A | ||
| XM_011522479.2:c.1890C>A | XP_011520781.1:p.Thr630= | |
| XM_011522481.3:c.1548C>A | XP_011520783.1:p.Thr516= | |
| XM_011522482.3:c.1890C>A | XP_011520784.1:p.Thr630= | |
| XM_017023212.1:c.1890C>A | XP_016878701.1:p.Thr630= | |
| XM_017023214.1:c.1890C>A | XP_016878703.1:p.Thr630= | |
| XM_024450261.1:c.1926C>A | XP_024306029.1:p.Thr642= | |
| XR_932836.2:n.2071C>A | ||
| XR_932837.3:n.2071C>A | ||
| XR_932838.3:n.2071C>A | ||
| NM_001171.6:c.1890C>A MANE Select | NP_001162.5:p.Thr630= |