Revel Score:
ENST00000439128
0.102
ENST00000511633
0.102
ENST00000510533
0.102
ENST00000507142 (MANE Select)
0.102
ENST00000512193
0.102
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001339 (MID)
Genomes Max Group AF
0.00001173 (NFE)
Exomes Max Group AF
0.00014161 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169477252T>C , CM000666.2:g.169477252T>C | GRCh38 |
| NC_000004.11:g.170398403T>C , CM000666.1:g.170398403T>C | GRCh37 |
| NC_000004.10:g.170634978T>C | NCBI36 |
| NG_027982.1:g.140376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.2138A>G | ENSP00000508844.1:p.His713Arg | |
| ENST00000685677.1:n.1604A>G | ||
| ENST00000686697.1:c.2000A>G | ENSP00000508689.1:p.His667Arg | |
| ENST00000687054.1:n.2800A>G | ||
| ENST00000687528.1:c.*1041A>G | ENSP00000510228.1:n.*1041A>G | |
| ENST00000687643.1:c.2249A>G | ENSP00000509309.1:p.His750Arg | |
| ENST00000688934.1:c.329A>G | ENSP00000510760.1:p.His110Arg | |
| ENST00000690540.1:n.1756A>G | ||
| ENST00000507142.6:c.2306A>G MANE Select | ENSP00000424757.2:p.His769Arg | |
| ENST00000638824.1:n.434A>G | ||
| ENST00000439128.6:c.2222A>G | ENSP00000408020.2:p.His741Arg | |
| ENST00000507142.5:c.2306A>G | ENSP00000424757.1:p.His769Arg | |
| ENST00000510533.5:c.2090A>G | ENSP00000427653.1:p.His697Arg | |
| ENST00000511633.5:c.2174A>G | ENSP00000423332.1:p.His725Arg | |
| ENST00000512193.5:c.2015A>G | ENSP00000424938.1:p.His672Arg | |
| NM_001199397.1:c.2306A>G | NP_001186326.1:p.His769Arg | |
| NM_001199398.1:c.2174A>G | NP_001186327.1:p.His725Arg | |
| NM_001199399.1:c.2015A>G | NP_001186328.1:p.His672Arg | |
| NM_001199400.1:c.2090A>G | NP_001186329.1:p.His697Arg | |
| NM_012224.2:c.2222A>G | NP_036356.1:p.His741Arg | |
| XM_006714228.1:c.2306A>G | XP_006714291.1:p.His769Arg | |
| XM_011532003.1:c.2222A>G | XP_011530305.1:p.His741Arg | |
| XM_011532004.1:c.2090A>G | XP_011530306.1:p.His697Arg | |
| XM_017008249.1:c.1685A>G | XP_016863738.1:p.His562Arg | |
| XM_017008251.1:c.1601A>G | XP_016863740.1:p.His534Arg | |
| XM_017008252.2:c.1601A>G | XP_016863741.1:p.His534Arg | |
| XM_017008253.1:c.1154A>G | XP_016863742.1:p.His385Arg | |
| XM_017008254.1:c.950A>G | XP_016863743.1:p.His317Arg | |
| XM_024454065.1:c.1685A>G | XP_024309833.1:p.His562Arg | |
| XR_001741233.1:n.2719+2151A>G | ||
| XR_001741234.2:n.3582A>G | ||
| NM_001199397.3:c.2306A>G MANE Select | NP_001186326.1:p.His769Arg | |
| NM_001199398.2:c.2174A>G | NP_001186327.1:p.His725Arg | |
| NM_001199399.2:c.2015A>G | NP_001186328.1:p.His672Arg | |
| NM_001199400.2:c.2090A>G | NP_001186329.1:p.His697Arg | |
| NM_001374418.1:c.2306A>G | NP_001361347.1:p.His769Arg | |
| NM_001374419.1:c.2222A>G | NP_001361348.1:p.His741Arg | |
| NM_001374420.1:c.2171A>G | NP_001361349.1:p.His724Arg | |
| NM_001374421.1:c.2000A>G | NP_001361350.1:p.His667Arg | |
| NM_012224.3:c.2222A>G | NP_036356.1:p.His741Arg | |
| NR_164630.1:n.2768A>G | ||
| NM_001199398.3:c.2174A>G | NP_001186327.1:p.His725Arg | |
| NM_001199399.3:c.2015A>G | NP_001186328.1:p.His672Arg | |
| NM_001199400.3:c.2090A>G | NP_001186329.1:p.His697Arg | |
| NM_012224.4:c.2222A>G | NP_036356.1:p.His741Arg |