gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001065 (AFR)
Genomes Max Group AF
0.00001923 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32459452T>A , CM000671.2:g.32459452T>A | GRCh38 |
| NC_000009.11:g.32459450T>A , CM000671.1:g.32459450T>A | GRCh37 |
| NC_000009.10:g.32449450T>A | NCBI36 |
| NG_046918.1:g.71873A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379868.6:c.2265A>T | ENSP00000369197.2:p.Val755= | |
| ENST00000379883.3:c.2400A>T MANE Select | ENSP00000369213.2:p.Val800= | |
| ENST00000679665.1:c.2187A>T | ENSP00000504921.1:p.Val729= | |
| ENST00000679771.1:c.*1823A>T | ENSP00000505015.1:n.*1823A>T | |
| ENST00000679859.1:c.900A>T | ENSP00000505702.1:p.Val300= | |
| ENST00000680198.1:c.*2168A>T | ENSP00000505143.1:n.*2168A>T | |
| ENST00000680733.1:c.*2168A>T | ENSP00000504892.1:n.*2168A>T | |
| ENST00000681352.1:n.1932A>T | ||
| ENST00000681750.1:c.2250A>T | ENSP00000506413.1:p.Val750= | |
| ENST00000379868.5:c.1791A>T | ENSP00000369197.1:p.Val597= | |
| ENST00000379883.2:c.2400A>T | ENSP00000369213.2:p.Val800= | |
| NM_014314.3:c.2400A>T | NP_055129.2:p.Val800= | |
| NM_014314.4:c.2400A>T MANE Select | NP_055129.2:p.Val800= | |
| NM_001385907.1:c.2394A>T | NP_001372836.1:p.Val798= | |
| NM_001385909.1:c.2229A>T | NP_001372838.1:p.Val743= | |
| NM_001385910.1:c.1959A>T | NP_001372839.1:p.Val653= | |
| NM_001385912.1:c.1791A>T | NP_001372841.1:p.Val597= | |
| NM_001385913.1:c.2385A>T | NP_001372842.1:p.Val795= | |
| NM_001385914.1:c.1956A>T | NP_001372843.1:p.Val652= |