Linked Data
ClinVar Variation Id:
240264
dbSNP Id:
rs775991910
ExAC:
7:91715698 C / T
gnomAD v2:
7-91715698-C-T
gnomAD v3:
7-92086384-C-T
gnomAD v4:
7-92086384-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92086384C>T , CM000669.2:g.92086384C>T | GRCh38 |
| NC_000007.13:g.91715698C>T , CM000669.1:g.91715698C>T | GRCh37 |
| NC_000007.12:g.91553634C>T | NCBI36 |
| NG_011623.1:g.150510C>T , LRG_331:g.150510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-782G>A (CYP51A1) | ENSP00000510368.1:n.1352-782G>A | |
| ENST00000356239.8:c.9181C>T (AKAP9) MANE Select | ENSP00000348573.3:p.Leu3061= | |
| ENST00000359028.7:c.9253C>T (AKAP9) | ENSP00000351922.4:p.Leu3085= | |
| ENST00000394534.7:c.2674C>T (AKAP9) | ENSP00000378042.3:p.Leu892= | |
| ENST00000435423.2:n.1021C>T (AKAP9) | ||
| ENST00000491695.2:c.3826C>T (AKAP9) | ENSP00000494626.2:p.Leu1276= | |
| ENST00000679448.1:c.9157C>T (AKAP9) | ENSP00000505889.1:p.Leu3053= | |
| ENST00000679457.1:c.9157C>T (AKAP9) | ENSP00000505450.1:p.Leu3053= | |
| ENST00000679474.1:n.9379C>T (AKAP9) | ||
| ENST00000679521.1:c.9127C>T (AKAP9) | ENSP00000505456.1:p.Leu3043= | |
| ENST00000679821.1:c.8923C>T (AKAP9) | ENSP00000506040.1:p.Leu2975= | |
| ENST00000680047.1:n.9379C>T (AKAP9) | ||
| ENST00000680072.1:c.9004C>T (AKAP9) | ENSP00000506581.1:p.Leu3002= | |
| ENST00000680181.1:c.9088C>T (AKAP9) | ENSP00000505548.1:p.Leu3030= | |
| ENST00000680365.1:c.2674C>T (AKAP9) | ENSP00000506019.1:p.Leu892= | |
| ENST00000680513.1:c.9040C>T (AKAP9) | ENSP00000505284.1:p.Leu3014= | |
| ENST00000680534.1:c.9220C>T (AKAP9) | ENSP00000506674.1:p.Leu3074= | |
| ENST00000680766.1:c.9157C>T (AKAP9) | ENSP00000505204.1:p.Leu3053= | |
| ENST00000680952.1:c.9157C>T (AKAP9) | ENSP00000506407.1:p.Leu3053= | |
| ENST00000681216.1:c.2518C>T (AKAP9) | ENSP00000505551.1:p.Leu840= | |
| ENST00000681412.1:c.9181C>T (AKAP9) | ENSP00000506486.1:p.Leu3061= | |
| ENST00000681722.1:c.9157C>T (AKAP9) | ENSP00000506566.1:p.Leu3053= | |
| ENST00000356239.7:c.9181C>T (AKAP9) | ENSP00000348573.3:p.Leu3061= | |
| ENST00000358100.6:c.9040C>T (AKAP9) | ENSP00000350813.3:p.Leu3014= | |
| ENST00000359028.6:c.9190C>T (AKAP9) | ENSP00000351922.3:p.Leu3064= | |
| ENST00000394534.6:c.2719C>T (AKAP9) | ENSP00000378042.2:p.Leu907= | |
| ENST00000435423.1:c.615C>T (AKAP9) | ||
| NM_005751.4:c.9181C>T , LRG_331t1:c.9181C>T (AKAP9) | NP_005742.4:p.Leu3061= | |
| NM_147185.2:c.9157C>T (AKAP9) | NP_671714.1:p.Leu3053= | |
| XM_006715827.1:c.9040C>T (AKAP9) | XP_006715890.1:p.Leu3014= | |
| XM_011515709.1:c.9328C>T (AKAP9) | XP_011514011.1:p.Leu3110= | |
| XM_011515710.1:c.9352C>T (AKAP9) | XP_011514012.1:p.Leu3118= | |
| XM_011515711.1:c.9292C>T (AKAP9) | XP_011514013.1:p.Leu3098= | |
| XM_011515712.1:c.9289C>T (AKAP9) | XP_011514014.1:p.Leu3097= | |
| XM_011515713.1:c.9274C>T (AKAP9) | XP_011514015.1:p.Leu3092= | |
| XM_011515714.1:c.9313C>T (AKAP9) | XP_011514016.1:p.Leu3105= | |
| XM_011515716.1:c.9232C>T (AKAP9) | XP_011514018.1:p.Leu3078= | |
| XM_011515717.1:c.9187C>T (AKAP9) | XP_011514019.1:p.Leu3063= | |
| XM_011515718.1:c.9217C>T (AKAP9) | XP_011514020.1:p.Leu3073= | |
| XM_011515719.1:c.9193C>T (AKAP9) | XP_011514021.1:p.Leu3065= | |
| XM_011515720.1:c.9076C>T (AKAP9) | XP_011514022.1:p.Leu3026= | |
| XM_011515721.1:c.3841C>T (AKAP9) | XP_011514023.1:p.Leu1281= | |
| XM_011515722.1:c.3802C>T (AKAP9) | XP_011514024.1:p.Leu1268= | |
| XM_017011642.2:c.9316C>T (AKAP9) | XP_016867131.1:p.Leu3106= | |
| XM_017011643.2:c.9277C>T (AKAP9) | XP_016867132.1:p.Leu3093= | |
| XM_017011644.2:c.9316C>T (AKAP9) | XP_016867133.1:p.Leu3106= | |
| XM_017011645.2:c.9262C>T (AKAP9) | XP_016867134.1:p.Leu3088= | |
| XM_017011646.2:c.9277C>T (AKAP9) | XP_016867135.1:p.Leu3093= | |
| XM_017011647.2:c.9223C>T (AKAP9) | XP_016867136.1:p.Leu3075= | |
| XM_017011648.2:c.9220C>T (AKAP9) | XP_016867137.1:p.Leu3074= | |
| XM_017011649.2:c.9253C>T (AKAP9) | XP_016867138.1:p.Leu3085= | |
| XM_017011650.2:c.9181C>T (AKAP9) | XP_016867139.1:p.Leu3061= | |
| XM_017011651.2:c.9175C>T (AKAP9) | XP_016867140.1:p.Leu3059= | |
| XM_017011652.2:c.9159+698C>T (AKAP9) | XP_016867141.1:n.9159+698C>T | |
| XM_017011653.2:c.9088C>T (AKAP9) | XP_016867142.1:p.Leu3030= | |
| XM_017011654.2:c.9040C>T (AKAP9) | XP_016867143.1:p.Leu3014= | |
| XM_017011655.2:c.8944C>T (AKAP9) | XP_016867144.1:p.Leu2982= | |
| XM_017011656.2:c.8944C>T (AKAP9) | XP_016867145.1:p.Leu2982= | |
| XM_017011657.2:c.4981C>T (AKAP9) | XP_016867146.1:p.Leu1661= | |
| XM_017011658.2:c.3865C>T (AKAP9) | XP_016867147.1:p.Leu1289= | |
| XM_017011659.2:c.3826C>T (AKAP9) | XP_016867148.1:p.Leu1276= | |
| XM_017011660.2:c.3826C>T (AKAP9) | XP_016867149.1:p.Leu1276= | |
| XM_024446631.1:c.9079C>T (AKAP9) | XP_024302399.1:p.Leu3027= | |
| NM_147185.3:c.9157C>T (AKAP9) | NP_671714.1:p.Leu3053= | |
| NM_001379277.1:c.3826C>T (AKAP9) | NP_001366206.1:p.Leu1276= | |
| NM_005751.5:c.9181C>T (AKAP9) MANE Select | NP_005742.4:p.Leu3061= |