gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05396147 (AFR)
Genomes Max Group AF
0.05228714 (AFR)
Exomes Max Group AF
0.05474947 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16182484T>A , CM000678.2:g.16182484T>A | GRCh38 |
| NC_000016.9:g.16276341T>A , CM000678.1:g.16276341T>A | GRCh37 |
| NC_000016.8:g.16183842T>A | NCBI36 |
| NG_007558.2:g.45988A>T | |
| NG_007558.3:g.46134A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2175A>T | ENSP00000483331.2:p.Val725= | |
| ENST00000205557.12:c.2175A>T MANE Select | ENSP00000205557.7:p.Val725= | |
| ENST00000205557.11:c.2175A>T | ENSP00000205557.7:p.Val725= | |
| ENST00000456970.6:c.2175A>T | ENSP00000405002.2:p.Val725= | |
| ENST00000574094.5:n.2040-559A>T | ||
| ENST00000622290.4:c.2175A>T | ENSP00000483331.1:p.Val725= | |
| NM_001171.5:c.2175A>T | NP_001162.4:p.Val725= | |
| XM_011522479.1:c.2175A>T | XP_011520781.1:p.Val725= | |
| XM_011522480.1:c.1833A>T | XP_011520782.1:p.Val611= | |
| XM_011522481.1:c.1833A>T | XP_011520783.1:p.Val611= | |
| XM_011522482.1:c.2175A>T | XP_011520784.1:p.Val725= | |
| XR_932836.1:n.2410A>T | ||
| XR_932837.1:n.2411A>T | ||
| XR_932838.1:n.2411A>T | ||
| NM_001351800.1:c.1833A>T | NP_001338729.1:p.Val611= | |
| NR_147784.1:n.2212A>T | ||
| XM_011522479.2:c.2175A>T | XP_011520781.1:p.Val725= | |
| XM_011522481.3:c.1833A>T | XP_011520783.1:p.Val611= | |
| XM_011522482.3:c.2175A>T | XP_011520784.1:p.Val725= | |
| XM_017023212.1:c.2175A>T | XP_016878701.1:p.Val725= | |
| XM_017023214.1:c.2175A>T | XP_016878703.1:p.Val725= | |
| XM_024450261.1:c.2211A>T | XP_024306029.1:p.Val737= | |
| XR_932836.2:n.2356A>T | ||
| XR_932837.3:n.2356A>T | ||
| XR_932838.3:n.2356A>T | ||
| NM_001171.6:c.2175A>T MANE Select | NP_001162.5:p.Val725= |