ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56463590T>A , CM000668.2:g.56463590T>A | GRCh38 |
| NC_000006.11:g.56328388T>A , CM000668.1:g.56328388T>A | GRCh37 |
| NC_000006.10:g.56436347T>A | NCBI36 |
| NG_029322.1:g.184307A>T | |
| NG_029322.2:g.496039A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.15971A>T | ENSP00000400883.3:p.Gln5324Leu | |
| ENST00000449297.7:c.16160A>T | ENSP00000393082.3:p.Gln5387Leu | |
| ENST00000520645.6:c.15746A>T | ENSP00000431030.2:p.Gln5249Leu | |
| ENST00000340834.10:c.7619A>T | ENSP00000489032.2:p.Gln2540Leu | |
| ENST00000651289.1:c.1353A>T | ||
| ENST00000651457.1:n.4656A>T | ||
| ENST00000651790.1:c.3631A>T | ||
| ENST00000651941.1:n.7428A>T | ||
| ENST00000680361.1:c.22934A>T MANE Select | ENSP00000505098.1:p.Gln7645Leu | |
| ENST00000244364.10:c.14993A>T | ENSP00000244364.6:p.Gln4998Leu | |
| ENST00000312431.10:c.16091A>T | ENSP00000307959.7:p.Gln5364Leu | |
| ENST00000361203.7:c.21974A>T | ENSP00000354508.3:p.Gln7325Leu | |
| ENST00000370754.9:c.16505A>T | ENSP00000359790.6:p.Gln5502Leu | |
| ENST00000370788.6:c.15716A>T | ENSP00000359824.2:p.Gln5239Leu | |
| ENST00000421834.6:c.15971A>T | ENSP00000400883.3:p.Gln5324Leu | |
| ENST00000466429.5:n.727A>T | ||
| ENST00000482156.5:n.1574A>T | ||
| ENST00000523292.5:c.367A>T | ||
| ENST00000523597.1:n.407A>T | ||
| NM_001144769.2:c.16505A>T | NP_001138241.1:p.Gln5502Leu | |
| NM_001144770.1:c.16091A>T | NP_001138242.1:p.Gln5364Leu | |
| NM_015548.4:c.14993A>T | NP_056363.2:p.Gln4998Leu | |
| NM_183380.3:c.15971A>T | NP_899236.1:p.Gln5324Leu | |
| XM_005249310.2:c.22934A>T | XP_005249367.1:p.Gln7645Leu | |
| XM_005249315.2:c.22835A>T | XP_005249372.1:p.Gln7612Leu | |
| XM_005249316.1:c.22649A>T | XP_005249373.1:p.Gln7550Leu | |
| XM_005249318.1:c.22520A>T | XP_005249375.1:p.Gln7507Leu | |
| XM_005249319.1:c.22421A>T | XP_005249376.1:p.Gln7474Leu | |
| XM_005249320.3:c.22400A>T | XP_005249377.1:p.Gln7467Leu | |
| XM_005249322.3:c.22379A>T | XP_005249379.1:p.Gln7460Leu | |
| XM_005249323.2:c.22301A>T | XP_005249380.1:p.Gln7434Leu | |
| XM_005249324.1:c.21323A>T | XP_005249381.1:p.Gln7108Leu | |
| XM_011514824.1:c.22862A>T | XP_011513126.1:p.Gln7621Leu | |
| XM_011514825.1:c.16532A>T | XP_011513127.1:p.Gln5511Leu | |
| XM_011514826.1:c.21974A>T | XP_011513128.1:p.Gln7325Leu | |
| XM_005249310.4:c.22934A>T | XP_005249367.1:p.Gln7645Leu | |
| XM_005249315.3:c.22835A>T | XP_005249372.1:p.Gln7612Leu | |
| XM_005249316.3:c.22649A>T | XP_005249373.1:p.Gln7550Leu | |
| XM_005249318.2:c.22520A>T | XP_005249375.1:p.Gln7507Leu | |
| XM_005249319.2:c.22421A>T | XP_005249376.1:p.Gln7474Leu | |
| XM_005249320.4:c.22400A>T | XP_005249377.1:p.Gln7467Leu | |
| XM_005249322.5:c.22379A>T | XP_005249379.1:p.Gln7460Leu | |
| XM_005249323.4:c.22301A>T | XP_005249380.1:p.Gln7434Leu | |
| XM_005249324.3:c.21323A>T | XP_005249381.1:p.Gln7108Leu | |
| XM_011514824.2:c.22862A>T | XP_011513126.1:p.Gln7621Leu | |
| XM_011514825.3:c.16532A>T | XP_011513127.1:p.Gln5511Leu | |
| XM_011514826.3:c.21974A>T | XP_011513128.1:p.Gln7325Leu | |
| XM_017011205.1:c.22961A>T | XP_016866694.1:p.Gln7654Leu | |
| XM_017011206.1:c.22943A>T | XP_016866695.1:p.Gln7648Leu | |
| XM_017011207.1:c.22898A>T | XP_016866696.1:p.Gln7633Leu | |
| XM_017011208.1:c.22889A>T | XP_016866697.1:p.Gln7630Leu | |
| XM_017011209.1:c.22871A>T | XP_016866698.1:p.Gln7624Leu | |
| XM_017011210.1:c.22961A>T | XP_016866699.1:p.Gln7654Leu | |
| XM_017011211.2:c.22889A>T | XP_016866700.1:p.Gln7630Leu | |
| XM_017011212.1:c.22727A>T | XP_016866701.1:p.Gln7576Leu | |
| XM_017011213.1:c.22634A>T | XP_016866702.1:p.Gln7545Leu | |
| XM_017011214.2:c.22562A>T | XP_016866703.1:p.Gln7521Leu | |
| XM_017011215.2:c.22634A>T | XP_016866704.1:p.Gln7545Leu | |
| XM_017011216.2:c.22562A>T | XP_016866705.1:p.Gln7521Leu | |
| XM_017011217.1:c.22337A>T | XP_016866706.1:p.Gln7446Leu | |
| XM_017011218.1:c.17528A>T | XP_016866707.1:p.Gln5843Leu | |
| XM_017011219.1:c.16703A>T | XP_016866708.1:p.Gln5568Leu | |
| XM_017011220.1:c.16577A>T | XP_016866709.1:p.Gln5526Leu | |
| XM_017011221.1:c.16469A>T | XP_016866710.1:p.Gln5490Leu | |
| XM_017011222.2:c.16391A>T | XP_016866711.1:p.Gln5464Leu | |
| XM_017011223.1:c.16376A>T | XP_016866712.1:p.Gln5459Leu | |
| XM_017011224.2:c.15716A>T | XP_016866713.1:p.Gln5239Leu | |
| XM_024446530.1:c.22280A>T | XP_024302298.1:p.Gln7427Leu | |
| NM_001144769.5:c.16505A>T | NP_001138241.1:p.Gln5502Leu | |
| NM_001144770.2:c.16091A>T | NP_001138242.1:p.Gln5364Leu | |
| NM_001374722.1:c.22862A>T | NP_001361651.1:p.Gln7621Leu | |
| NM_001374729.1:c.21974A>T | NP_001361658.1:p.Gln7325Leu | |
| NM_001374730.1:c.15716A>T | NP_001361659.1:p.Gln5239Leu | |
| NM_001374734.1:c.22889A>T | NP_001361663.1:p.Gln7630Leu | |
| NM_001374736.1:c.22934A>T MANE Select | NP_001361665.1:p.Gln7645Leu | |
| NM_015548.5:c.14993A>T | NP_056363.2:p.Gln4998Leu | |
| NM_183380.4:c.15971A>T | NP_899236.1:p.Gln5324Leu | |
| NM_001386100.1:c.15953A>T | NP_001373029.1:p.Gln5318Leu |