gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7897075A>T , CM000667.2:g.7897075A>T | GRCh38 |
| NC_000005.9:g.7897188A>T , CM000667.1:g.7897188A>T | GRCh37 |
| NC_000005.8:g.7950188A>T | NCBI36 |
| NG_008856.1:g.32972A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.1780A>T MANE Select | ENSP00000402510.2:p.Arg594Ter | |
| ENST00000264668.6:c.1861A>T | ENSP00000264668.2:p.Arg621Ter | |
| ENST00000440940.6:c.1780A>T | ENSP00000402510.2:p.Arg594Ter | |
| ENST00000508354.1:n.531A>T | ||
| ENST00000510525.5:c.1716A>T | ||
| ENST00000511461.5:c.1693A>T | ||
| ENST00000513439.5:c.*1487A>T | ENSP00000426710.1:n.*1487A>T | |
| NM_002454.2:c.1780A>T | NP_002445.2:p.Arg594Ter | |
| NM_024010.2:c.1861A>T | NP_076915.2:p.Arg621Ter | |
| XM_011514043.1:c.1861A>T | XP_011512345.1:p.Arg621Ter | |
| XM_011514044.1:c.1780A>T | XP_011512346.1:p.Arg594Ter | |
| XR_241703.1:n.1787A>T | ||
| XR_925614.1:n.1906A>T | ||
| NM_001364440.1:c.1780A>T | NP_001351369.1:p.Arg594Ter | |
| NM_001364441.1:c.1780A>T | NP_001351370.1:p.Arg594Ter | |
| NM_001364442.1:c.1780A>T | NP_001351371.1:p.Arg594Ter | |
| NM_024010.3:c.1780A>T | NP_076915.3:p.Arg594Ter | |
| NR_134480.1:n.1903A>T | ||
| NR_134481.1:n.1828A>T | ||
| NR_134482.1:n.1763A>T | ||
| NR_157168.1:n.1833A>T | ||
| NR_157169.1:n.1693A>T | ||
| NR_157170.1:n.1859A>T | ||
| NR_157171.1:n.1716A>T | ||
| NR_157172.1:n.1630A>T | ||
| NR_157173.1:n.1870A>T | ||
| NR_157174.1:n.1871A>T | ||
| NR_157175.1:n.2025A>T | ||
| NR_157176.1:n.2188A>T | ||
| NR_157177.1:n.1868A>T | ||
| NR_157178.1:n.1896A>T | ||
| XM_024446063.1:c.1825A>T | XP_024301831.1:p.Arg609Ter | |
| XM_024446064.1:c.1780A>T | XP_024301832.1:p.Arg594Ter | |
| XR_001742071.1:n.2058A>T | ||
| XR_001742072.1:n.2035A>T | ||
| XR_001742074.1:n.1794A>T | ||
| XR_001742075.1:n.1946A>T | ||
| XR_001742076.1:n.2023A>T | ||
| XR_001742077.1:n.2046A>T | ||
| NM_001364440.2:c.1780A>T | NP_001351369.1:p.Arg594Ter | |
| NM_001364441.2:c.1780A>T | NP_001351370.1:p.Arg594Ter | |
| NM_001364442.2:c.1780A>T | NP_001351371.1:p.Arg594Ter | |
| NM_002454.3:c.1780A>T MANE Select | NP_002445.2:p.Arg594Ter | |
| NM_024010.4:c.1780A>T | NP_076915.3:p.Arg594Ter | |
| NR_134480.2:n.1859A>T | ||
| NR_134481.2:n.1784A>T | ||
| NR_134482.2:n.1719A>T | ||
| NR_157168.2:n.1833A>T | ||
| NR_157169.2:n.1693A>T | ||
| NR_157170.2:n.1859A>T | ||
| NR_157171.2:n.1716A>T | ||
| NR_157172.2:n.1630A>T | ||
| NR_157173.2:n.1870A>T | ||
| NR_157174.2:n.1871A>T | ||
| NR_157175.2:n.2025A>T | ||
| NR_157176.2:n.2188A>T | ||
| NR_157177.2:n.1868A>T | ||
| NR_157178.2:n.1896A>T |