Linked Data
ClinVar Variation Id:
191525
dbSNP Id:
rs146495719
ExAC:
7:91726522 C / T
gnomAD v2:
7-91726522-C-T
gnomAD v3:
7-92097208-C-T
gnomAD v4:
7-92097208-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92097208C>T , CM000669.2:g.92097208C>T | GRCh38 |
| NC_000007.13:g.91726522C>T , CM000669.1:g.91726522C>T | GRCh37 |
| NC_000007.12:g.91564458C>T | NCBI36 |
| NG_011623.1:g.161334C>T , LRG_331:g.161334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11606G>A (CYP51A1) | ENSP00000510368.1:n.1352-11606G>A | |
| ENST00000356239.8:c.10249C>T (AKAP9) MANE Select | ENSP00000348573.3:p.Arg3417Cys | |
| ENST00000359028.7:c.10321C>T (AKAP9) | ENSP00000351922.4:p.Arg3441Cys | |
| ENST00000394534.7:c.3390+352C>T (AKAP9) | ENSP00000378042.3:n.3390+352C>T | |
| ENST00000487692.2:n.2327C>T (AKAP9) | ||
| ENST00000491695.2:c.4894C>T (AKAP9) | ENSP00000494626.2:p.Arg1632Cys | |
| ENST00000679448.1:c.*1129C>T (AKAP9) | ENSP00000505889.1:n.*1129C>T | |
| ENST00000679457.1:c.10225C>T (AKAP9) | ENSP00000505450.1:p.Arg3409Cys | |
| ENST00000679474.1:n.10447C>T (AKAP9) | ||
| ENST00000679521.1:c.10195C>T (AKAP9) | ENSP00000505456.1:p.Arg3399Cys | |
| ENST00000679821.1:c.9991C>T (AKAP9) | ENSP00000506040.1:p.Arg3331Cys | |
| ENST00000680047.1:n.10447C>T (AKAP9) | ||
| ENST00000680072.1:c.10072C>T (AKAP9) | ENSP00000506581.1:p.Arg3358Cys | |
| ENST00000680181.1:c.10156C>T (AKAP9) | ENSP00000505548.1:p.Arg3386Cys | |
| ENST00000680365.1:c.3888C>T (AKAP9) | ENSP00000506019.1:n.3888C>T | |
| ENST00000680513.1:c.10108C>T (AKAP9) | ENSP00000505284.1:p.Arg3370Cys | |
| ENST00000680534.1:c.10288C>T (AKAP9) | ENSP00000506674.1:p.Arg3430Cys | |
| ENST00000680766.1:c.10225C>T (AKAP9) | ENSP00000505204.1:p.Arg3409Cys | |
| ENST00000680952.1:c.10225C>T (AKAP9) | ENSP00000506407.1:p.Arg3409Cys | |
| ENST00000681216.1:c.4009C>T (AKAP9) | ENSP00000505551.1:n.4009C>T | |
| ENST00000681412.1:c.10249C>T (AKAP9) | ENSP00000506486.1:p.Arg3417Cys | |
| ENST00000681722.1:c.10225C>T (AKAP9) | ENSP00000506566.1:p.Arg3409Cys | |
| ENST00000356239.7:c.10249C>T (AKAP9) | ENSP00000348573.3:p.Arg3417Cys | |
| ENST00000359028.6:c.10258C>T (AKAP9) | ENSP00000351922.3:p.Arg3420Cys | |
| ENST00000394534.6:c.3787C>T (AKAP9) | ENSP00000378042.2:p.Arg1263Cys | |
| ENST00000487258.5:n.1999C>T (AKAP9) | ||
| ENST00000487692.1:n.49C>T (AKAP9) | ||
| NM_005751.4:c.10249C>T , LRG_331t1:c.10249C>T (AKAP9) | NP_005742.4:p.Arg3417Cys | |
| NM_147185.2:c.10225C>T (AKAP9) | NP_671714.1:p.Arg3409Cys | |
| XM_006715827.1:c.10108C>T (AKAP9) | XP_006715890.1:p.Arg3370Cys | |
| XM_011515709.1:c.10396C>T (AKAP9) | XP_011514011.1:p.Arg3466Cys | |
| XM_011515710.1:c.10420C>T (AKAP9) | XP_011514012.1:p.Arg3474Cys | |
| XM_011515711.1:c.10360C>T (AKAP9) | XP_011514013.1:p.Arg3454Cys | |
| XM_011515712.1:c.10357C>T (AKAP9) | XP_011514014.1:p.Arg3453Cys | |
| XM_011515713.1:c.10342C>T (AKAP9) | XP_011514015.1:p.Arg3448Cys | |
| XM_011515714.1:c.10381C>T (AKAP9) | XP_011514016.1:p.Arg3461Cys | |
| XM_011515716.1:c.10300C>T (AKAP9) | XP_011514018.1:p.Arg3434Cys | |
| XM_011515717.1:c.10255C>T (AKAP9) | XP_011514019.1:p.Arg3419Cys | |
| XM_011515718.1:c.10285C>T (AKAP9) | XP_011514020.1:p.Arg3429Cys | |
| XM_011515719.1:c.10261C>T (AKAP9) | XP_011514021.1:p.Arg3421Cys | |
| XM_011515721.1:c.4909C>T (AKAP9) | XP_011514023.1:p.Arg1637Cys | |
| XM_011515722.1:c.4870C>T (AKAP9) | XP_011514024.1:p.Arg1624Cys | |
| XM_017011642.2:c.10384C>T (AKAP9) | XP_016867131.1:p.Arg3462Cys | |
| XM_017011643.2:c.10345C>T (AKAP9) | XP_016867132.1:p.Arg3449Cys | |
| XM_017011644.2:c.10384C>T (AKAP9) | XP_016867133.1:p.Arg3462Cys | |
| XM_017011645.2:c.10330C>T (AKAP9) | XP_016867134.1:p.Arg3444Cys | |
| XM_017011646.2:c.10345C>T (AKAP9) | XP_016867135.1:p.Arg3449Cys | |
| XM_017011647.2:c.10291C>T (AKAP9) | XP_016867136.1:p.Arg3431Cys | |
| XM_017011648.2:c.10288C>T (AKAP9) | XP_016867137.1:p.Arg3430Cys | |
| XM_017011649.2:c.10321C>T (AKAP9) | XP_016867138.1:p.Arg3441Cys | |
| XM_017011650.2:c.10249C>T (AKAP9) | XP_016867139.1:p.Arg3417Cys | |
| XM_017011651.2:c.10243C>T (AKAP9) | XP_016867140.1:p.Arg3415Cys | |
| XM_017011652.2:c.10195C>T (AKAP9) | XP_016867141.1:p.Arg3399Cys | |
| XM_017011653.2:c.10156C>T (AKAP9) | XP_016867142.1:p.Arg3386Cys | |
| XM_017011654.2:c.10108C>T (AKAP9) | XP_016867143.1:p.Arg3370Cys | |
| XM_017011655.2:c.10012C>T (AKAP9) | XP_016867144.1:p.Arg3338Cys | |
| XM_017011656.2:c.10012C>T (AKAP9) | XP_016867145.1:p.Arg3338Cys | |
| XM_017011657.2:c.6049C>T (AKAP9) | XP_016867146.1:p.Arg2017Cys | |
| XM_017011658.2:c.4933C>T (AKAP9) | XP_016867147.1:p.Arg1645Cys | |
| XM_017011659.2:c.4894C>T (AKAP9) | XP_016867148.1:p.Arg1632Cys | |
| XM_017011660.2:c.4894C>T (AKAP9) | XP_016867149.1:p.Arg1632Cys | |
| XM_024446631.1:c.10147C>T (AKAP9) | XP_024302399.1:p.Arg3383Cys | |
| NM_147185.3:c.10225C>T (AKAP9) | NP_671714.1:p.Arg3409Cys | |
| NM_001379277.1:c.4894C>T (AKAP9) | NP_001366206.1:p.Arg1632Cys | |
| NM_005751.5:c.10249C>T (AKAP9) MANE Select | NP_005742.4:p.Arg3417Cys |