Linked Data
ClinVar Variation Id:
191396
dbSNP Id:
rs144021475
ExAC:
7:91726103 T / C
gnomAD v2:
7-91726103-T-C
gnomAD v3:
7-92096789-T-C
gnomAD v4:
7-92096789-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92096789T>C , CM000669.2:g.92096789T>C | GRCh38 |
| NC_000007.13:g.91726103T>C , CM000669.1:g.91726103T>C | GRCh37 |
| NC_000007.12:g.91564039T>C | NCBI36 |
| NG_011623.1:g.160915T>C , LRG_331:g.160915T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11187A>G (CYP51A1) | ENSP00000510368.1:n.1352-11187A>G | |
| ENST00000356239.8:c.9830T>C (AKAP9) MANE Select | ENSP00000348573.3:p.Ile3277Thr | |
| ENST00000359028.7:c.9902T>C (AKAP9) | ENSP00000351922.4:p.Ile3301Thr | |
| ENST00000394534.7:c.3323T>C (AKAP9) | ENSP00000378042.3:p.Ile1108Thr | |
| ENST00000487692.2:n.1908T>C (AKAP9) | ||
| ENST00000491695.2:c.4475T>C (AKAP9) | ENSP00000494626.2:p.Ile1492Thr | |
| ENST00000679448.1:c.*710T>C (AKAP9) | ENSP00000505889.1:n.*710T>C | |
| ENST00000679457.1:c.9806T>C (AKAP9) | ENSP00000505450.1:p.Ile3269Thr | |
| ENST00000679474.1:n.10028T>C (AKAP9) | ||
| ENST00000679521.1:c.9776T>C (AKAP9) | ENSP00000505456.1:p.Ile3259Thr | |
| ENST00000679821.1:c.9572T>C (AKAP9) | ENSP00000506040.1:p.Ile3191Thr | |
| ENST00000680047.1:n.10028T>C (AKAP9) | ||
| ENST00000680072.1:c.9653T>C (AKAP9) | ENSP00000506581.1:p.Ile3218Thr | |
| ENST00000680181.1:c.9737T>C (AKAP9) | ENSP00000505548.1:p.Ile3246Thr | |
| ENST00000680365.1:c.3469T>C (AKAP9) | ENSP00000506019.1:n.3469T>C | |
| ENST00000680513.1:c.9689T>C (AKAP9) | ENSP00000505284.1:p.Ile3230Thr | |
| ENST00000680534.1:c.9869T>C (AKAP9) | ENSP00000506674.1:p.Ile3290Thr | |
| ENST00000680766.1:c.9806T>C (AKAP9) | ENSP00000505204.1:p.Ile3269Thr | |
| ENST00000680952.1:c.9806T>C (AKAP9) | ENSP00000506407.1:p.Ile3269Thr | |
| ENST00000681216.1:c.3590T>C (AKAP9) | ENSP00000505551.1:n.3590T>C | |
| ENST00000681412.1:c.9830T>C (AKAP9) | ENSP00000506486.1:p.Ile3277Thr | |
| ENST00000681722.1:c.9806T>C (AKAP9) | ENSP00000506566.1:p.Ile3269Thr | |
| ENST00000356239.7:c.9830T>C (AKAP9) | ENSP00000348573.3:p.Ile3277Thr | |
| ENST00000359028.6:c.9839T>C (AKAP9) | ENSP00000351922.3:p.Ile3280Thr | |
| ENST00000394534.6:c.3368T>C (AKAP9) | ENSP00000378042.2:p.Ile1123Thr | |
| ENST00000487258.5:n.1580T>C (AKAP9) | ||
| NM_005751.4:c.9830T>C , LRG_331t1:c.9830T>C (AKAP9) | NP_005742.4:p.Ile3277Thr | |
| NM_147185.2:c.9806T>C (AKAP9) | NP_671714.1:p.Ile3269Thr | |
| XM_006715827.1:c.9689T>C (AKAP9) | XP_006715890.1:p.Ile3230Thr | |
| XM_011515709.1:c.9977T>C (AKAP9) | XP_011514011.1:p.Ile3326Thr | |
| XM_011515710.1:c.10001T>C (AKAP9) | XP_011514012.1:p.Ile3334Thr | |
| XM_011515711.1:c.9941T>C (AKAP9) | XP_011514013.1:p.Ile3314Thr | |
| XM_011515712.1:c.9938T>C (AKAP9) | XP_011514014.1:p.Ile3313Thr | |
| XM_011515713.1:c.9923T>C (AKAP9) | XP_011514015.1:p.Ile3308Thr | |
| XM_011515714.1:c.9962T>C (AKAP9) | XP_011514016.1:p.Ile3321Thr | |
| XM_011515716.1:c.9881T>C (AKAP9) | XP_011514018.1:p.Ile3294Thr | |
| XM_011515717.1:c.9836T>C (AKAP9) | XP_011514019.1:p.Ile3279Thr | |
| XM_011515718.1:c.9866T>C (AKAP9) | XP_011514020.1:p.Ile3289Thr | |
| XM_011515719.1:c.9842T>C (AKAP9) | XP_011514021.1:p.Ile3281Thr | |
| XM_011515721.1:c.4490T>C (AKAP9) | XP_011514023.1:p.Ile1497Thr | |
| XM_011515722.1:c.4451T>C (AKAP9) | XP_011514024.1:p.Ile1484Thr | |
| XM_017011642.2:c.9965T>C (AKAP9) | XP_016867131.1:p.Ile3322Thr | |
| XM_017011643.2:c.9926T>C (AKAP9) | XP_016867132.1:p.Ile3309Thr | |
| XM_017011644.2:c.9965T>C (AKAP9) | XP_016867133.1:p.Ile3322Thr | |
| XM_017011645.2:c.9911T>C (AKAP9) | XP_016867134.1:p.Ile3304Thr | |
| XM_017011646.2:c.9926T>C (AKAP9) | XP_016867135.1:p.Ile3309Thr | |
| XM_017011647.2:c.9872T>C (AKAP9) | XP_016867136.1:p.Ile3291Thr | |
| XM_017011648.2:c.9869T>C (AKAP9) | XP_016867137.1:p.Ile3290Thr | |
| XM_017011649.2:c.9902T>C (AKAP9) | XP_016867138.1:p.Ile3301Thr | |
| XM_017011650.2:c.9830T>C (AKAP9) | XP_016867139.1:p.Ile3277Thr | |
| XM_017011651.2:c.9824T>C (AKAP9) | XP_016867140.1:p.Ile3275Thr | |
| XM_017011652.2:c.9776T>C (AKAP9) | XP_016867141.1:p.Ile3259Thr | |
| XM_017011653.2:c.9737T>C (AKAP9) | XP_016867142.1:p.Ile3246Thr | |
| XM_017011654.2:c.9689T>C (AKAP9) | XP_016867143.1:p.Ile3230Thr | |
| XM_017011655.2:c.9593T>C (AKAP9) | XP_016867144.1:p.Ile3198Thr | |
| XM_017011656.2:c.9593T>C (AKAP9) | XP_016867145.1:p.Ile3198Thr | |
| XM_017011657.2:c.5630T>C (AKAP9) | XP_016867146.1:p.Ile1877Thr | |
| XM_017011658.2:c.4514T>C (AKAP9) | XP_016867147.1:p.Ile1505Thr | |
| XM_017011659.2:c.4475T>C (AKAP9) | XP_016867148.1:p.Ile1492Thr | |
| XM_017011660.2:c.4475T>C (AKAP9) | XP_016867149.1:p.Ile1492Thr | |
| XM_024446631.1:c.9728T>C (AKAP9) | XP_024302399.1:p.Ile3243Thr | |
| NM_147185.3:c.9806T>C (AKAP9) | NP_671714.1:p.Ile3269Thr | |
| NM_001379277.1:c.4475T>C (AKAP9) | NP_001366206.1:p.Ile1492Thr | |
| NM_005751.5:c.9830T>C (AKAP9) MANE Select | NP_005742.4:p.Ile3277Thr |