Linked Data
ClinVar Variation Id:
527014
dbSNP Id:
rs61757674
ExAC:
7:91724455 C / T
gnomAD v2:
7-91724455-C-T
gnomAD v3:
7-92095141-C-T
gnomAD v4:
7-92095141-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92095141C>T , CM000669.2:g.92095141C>T | GRCh38 |
| NC_000007.13:g.91724455C>T , CM000669.1:g.91724455C>T | GRCh37 |
| NC_000007.12:g.91562391C>T | NCBI36 |
| NG_011623.1:g.159267C>T , LRG_331:g.159267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-9539G>A (CYP51A1) | ENSP00000510368.1:n.1352-9539G>A | |
| ENST00000356239.8:c.9697C>T (AKAP9) MANE Select | ENSP00000348573.3:p.Arg3233Cys | |
| ENST00000359028.7:c.9769C>T (AKAP9) | ENSP00000351922.4:p.Arg3257Cys | |
| ENST00000394534.7:c.3190C>T (AKAP9) | ENSP00000378042.3:p.Arg1064Cys | |
| ENST00000487692.2:n.1775C>T (AKAP9) | ||
| ENST00000491695.2:c.4342C>T (AKAP9) | ENSP00000494626.2:p.Arg1448Cys | |
| ENST00000679448.1:c.*577C>T (AKAP9) | ENSP00000505889.1:n.*577C>T | |
| ENST00000679457.1:c.9673C>T (AKAP9) | ENSP00000505450.1:p.Arg3225Cys | |
| ENST00000679474.1:n.9895C>T (AKAP9) | ||
| ENST00000679521.1:c.9643C>T (AKAP9) | ENSP00000505456.1:p.Arg3215Cys | |
| ENST00000679821.1:c.9439C>T (AKAP9) | ENSP00000506040.1:p.Arg3147Cys | |
| ENST00000680047.1:n.9895C>T (AKAP9) | ||
| ENST00000680072.1:c.9520C>T (AKAP9) | ENSP00000506581.1:p.Arg3174Cys | |
| ENST00000680181.1:c.9604C>T (AKAP9) | ENSP00000505548.1:p.Arg3202Cys | |
| ENST00000680365.1:c.3190C>T (AKAP9) | ENSP00000506019.1:p.Arg1064Cys | |
| ENST00000680513.1:c.9556C>T (AKAP9) | ENSP00000505284.1:p.Arg3186Cys | |
| ENST00000680534.1:c.9736C>T (AKAP9) | ENSP00000506674.1:p.Arg3246Cys | |
| ENST00000680766.1:c.9673C>T (AKAP9) | ENSP00000505204.1:p.Arg3225Cys | |
| ENST00000680952.1:c.9673C>T (AKAP9) | ENSP00000506407.1:p.Arg3225Cys | |
| ENST00000681216.1:c.3457C>T (AKAP9) | ENSP00000505551.1:n.3457C>T | |
| ENST00000681412.1:c.9697C>T (AKAP9) | ENSP00000506486.1:p.Arg3233Cys | |
| ENST00000681722.1:c.9673C>T (AKAP9) | ENSP00000506566.1:p.Arg3225Cys | |
| ENST00000356239.7:c.9697C>T (AKAP9) | ENSP00000348573.3:p.Arg3233Cys | |
| ENST00000359028.6:c.9706C>T (AKAP9) | ENSP00000351922.3:p.Arg3236Cys | |
| ENST00000394534.6:c.3235C>T (AKAP9) | ENSP00000378042.2:p.Arg1079Cys | |
| ENST00000487258.5:n.1447C>T (AKAP9) | ||
| NM_005751.4:c.9697C>T , LRG_331t1:c.9697C>T (AKAP9) | NP_005742.4:p.Arg3233Cys | |
| NM_147185.2:c.9673C>T (AKAP9) | NP_671714.1:p.Arg3225Cys | |
| XM_006715827.1:c.9556C>T (AKAP9) | XP_006715890.1:p.Arg3186Cys | |
| XM_011515709.1:c.9844C>T (AKAP9) | XP_011514011.1:p.Arg3282Cys | |
| XM_011515710.1:c.9868C>T (AKAP9) | XP_011514012.1:p.Arg3290Cys | |
| XM_011515711.1:c.9808C>T (AKAP9) | XP_011514013.1:p.Arg3270Cys | |
| XM_011515712.1:c.9805C>T (AKAP9) | XP_011514014.1:p.Arg3269Cys | |
| XM_011515713.1:c.9790C>T (AKAP9) | XP_011514015.1:p.Arg3264Cys | |
| XM_011515714.1:c.9829C>T (AKAP9) | XP_011514016.1:p.Arg3277Cys | |
| XM_011515716.1:c.9748C>T (AKAP9) | XP_011514018.1:p.Arg3250Cys | |
| XM_011515717.1:c.9703C>T (AKAP9) | XP_011514019.1:p.Arg3235Cys | |
| XM_011515718.1:c.9733C>T (AKAP9) | XP_011514020.1:p.Arg3245Cys | |
| XM_011515719.1:c.9709C>T (AKAP9) | XP_011514021.1:p.Arg3237Cys | |
| XM_011515721.1:c.4357C>T (AKAP9) | XP_011514023.1:p.Arg1453Cys | |
| XM_011515722.1:c.4318C>T (AKAP9) | XP_011514024.1:p.Arg1440Cys | |
| XM_017011642.2:c.9832C>T (AKAP9) | XP_016867131.1:p.Arg3278Cys | |
| XM_017011643.2:c.9793C>T (AKAP9) | XP_016867132.1:p.Arg3265Cys | |
| XM_017011644.2:c.9832C>T (AKAP9) | XP_016867133.1:p.Arg3278Cys | |
| XM_017011645.2:c.9778C>T (AKAP9) | XP_016867134.1:p.Arg3260Cys | |
| XM_017011646.2:c.9793C>T (AKAP9) | XP_016867135.1:p.Arg3265Cys | |
| XM_017011647.2:c.9739C>T (AKAP9) | XP_016867136.1:p.Arg3247Cys | |
| XM_017011648.2:c.9736C>T (AKAP9) | XP_016867137.1:p.Arg3246Cys | |
| XM_017011649.2:c.9769C>T (AKAP9) | XP_016867138.1:p.Arg3257Cys | |
| XM_017011650.2:c.9697C>T (AKAP9) | XP_016867139.1:p.Arg3233Cys | |
| XM_017011651.2:c.9691C>T (AKAP9) | XP_016867140.1:p.Arg3231Cys | |
| XM_017011652.2:c.9643C>T (AKAP9) | XP_016867141.1:p.Arg3215Cys | |
| XM_017011653.2:c.9604C>T (AKAP9) | XP_016867142.1:p.Arg3202Cys | |
| XM_017011654.2:c.9556C>T (AKAP9) | XP_016867143.1:p.Arg3186Cys | |
| XM_017011655.2:c.9460C>T (AKAP9) | XP_016867144.1:p.Arg3154Cys | |
| XM_017011656.2:c.9460C>T (AKAP9) | XP_016867145.1:p.Arg3154Cys | |
| XM_017011657.2:c.5497C>T (AKAP9) | XP_016867146.1:p.Arg1833Cys | |
| XM_017011658.2:c.4381C>T (AKAP9) | XP_016867147.1:p.Arg1461Cys | |
| XM_017011659.2:c.4342C>T (AKAP9) | XP_016867148.1:p.Arg1448Cys | |
| XM_017011660.2:c.4342C>T (AKAP9) | XP_016867149.1:p.Arg1448Cys | |
| XM_024446631.1:c.9595C>T (AKAP9) | XP_024302399.1:p.Arg3199Cys | |
| NM_147185.3:c.9673C>T (AKAP9) | NP_671714.1:p.Arg3225Cys | |
| NM_001379277.1:c.4342C>T (AKAP9) | NP_001366206.1:p.Arg1448Cys | |
| NM_005751.5:c.9697C>T (AKAP9) MANE Select | NP_005742.4:p.Arg3233Cys |