Linked Data
ClinVar Variation Id:
191523
dbSNP Id:
rs201048693
ExAC:
7:91726036 A / G
gnomAD v2:
7-91726036-A-G
gnomAD v3:
7-92096722-A-G
gnomAD v4:
7-92096722-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92096722A>G , CM000669.2:g.92096722A>G | GRCh38 |
| NC_000007.13:g.91726036A>G , CM000669.1:g.91726036A>G | GRCh37 |
| NC_000007.12:g.91563972A>G | NCBI36 |
| NG_011623.1:g.160848A>G , LRG_331:g.160848A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-11120T>C (CYP51A1) | ENSP00000510368.1:n.1352-11120T>C | |
| ENST00000356239.8:c.9763A>G (AKAP9) MANE Select | ENSP00000348573.3:p.Arg3255Gly | |
| ENST00000359028.7:c.9835A>G (AKAP9) | ENSP00000351922.4:p.Arg3279Gly | |
| ENST00000394534.7:c.3256A>G (AKAP9) | ENSP00000378042.3:p.Arg1086Gly | |
| ENST00000487692.2:n.1841A>G (AKAP9) | ||
| ENST00000491695.2:c.4408A>G (AKAP9) | ENSP00000494626.2:p.Arg1470Gly | |
| ENST00000679448.1:c.*643A>G (AKAP9) | ENSP00000505889.1:n.*643A>G | |
| ENST00000679457.1:c.9739A>G (AKAP9) | ENSP00000505450.1:p.Arg3247Gly | |
| ENST00000679474.1:n.9961A>G (AKAP9) | ||
| ENST00000679521.1:c.9709A>G (AKAP9) | ENSP00000505456.1:p.Arg3237Gly | |
| ENST00000679821.1:c.9505A>G (AKAP9) | ENSP00000506040.1:p.Arg3169Gly | |
| ENST00000680047.1:n.9961A>G (AKAP9) | ||
| ENST00000680072.1:c.9586A>G (AKAP9) | ENSP00000506581.1:p.Arg3196Gly | |
| ENST00000680181.1:c.9670A>G (AKAP9) | ENSP00000505548.1:p.Arg3224Gly | |
| ENST00000680365.1:c.3402A>G (AKAP9) | ENSP00000506019.1:n.3402A>G | |
| ENST00000680513.1:c.9622A>G (AKAP9) | ENSP00000505284.1:p.Arg3208Gly | |
| ENST00000680534.1:c.9802A>G (AKAP9) | ENSP00000506674.1:p.Arg3268Gly | |
| ENST00000680766.1:c.9739A>G (AKAP9) | ENSP00000505204.1:p.Arg3247Gly | |
| ENST00000680952.1:c.9739A>G (AKAP9) | ENSP00000506407.1:p.Arg3247Gly | |
| ENST00000681216.1:c.3523A>G (AKAP9) | ENSP00000505551.1:n.3523A>G | |
| ENST00000681412.1:c.9763A>G (AKAP9) | ENSP00000506486.1:p.Arg3255Gly | |
| ENST00000681722.1:c.9739A>G (AKAP9) | ENSP00000506566.1:p.Arg3247Gly | |
| ENST00000356239.7:c.9763A>G (AKAP9) | ENSP00000348573.3:p.Arg3255Gly | |
| ENST00000359028.6:c.9772A>G (AKAP9) | ENSP00000351922.3:p.Arg3258Gly | |
| ENST00000394534.6:c.3301A>G (AKAP9) | ENSP00000378042.2:p.Arg1101Gly | |
| ENST00000487258.5:n.1513A>G (AKAP9) | ||
| NM_005751.4:c.9763A>G , LRG_331t1:c.9763A>G (AKAP9) | NP_005742.4:p.Arg3255Gly | |
| NM_147185.2:c.9739A>G (AKAP9) | NP_671714.1:p.Arg3247Gly | |
| XM_006715827.1:c.9622A>G (AKAP9) | XP_006715890.1:p.Arg3208Gly | |
| XM_011515709.1:c.9910A>G (AKAP9) | XP_011514011.1:p.Arg3304Gly | |
| XM_011515710.1:c.9934A>G (AKAP9) | XP_011514012.1:p.Arg3312Gly | |
| XM_011515711.1:c.9874A>G (AKAP9) | XP_011514013.1:p.Arg3292Gly | |
| XM_011515712.1:c.9871A>G (AKAP9) | XP_011514014.1:p.Arg3291Gly | |
| XM_011515713.1:c.9856A>G (AKAP9) | XP_011514015.1:p.Arg3286Gly | |
| XM_011515714.1:c.9895A>G (AKAP9) | XP_011514016.1:p.Arg3299Gly | |
| XM_011515716.1:c.9814A>G (AKAP9) | XP_011514018.1:p.Arg3272Gly | |
| XM_011515717.1:c.9769A>G (AKAP9) | XP_011514019.1:p.Arg3257Gly | |
| XM_011515718.1:c.9799A>G (AKAP9) | XP_011514020.1:p.Arg3267Gly | |
| XM_011515719.1:c.9775A>G (AKAP9) | XP_011514021.1:p.Arg3259Gly | |
| XM_011515721.1:c.4423A>G (AKAP9) | XP_011514023.1:p.Arg1475Gly | |
| XM_011515722.1:c.4384A>G (AKAP9) | XP_011514024.1:p.Arg1462Gly | |
| XM_017011642.2:c.9898A>G (AKAP9) | XP_016867131.1:p.Arg3300Gly | |
| XM_017011643.2:c.9859A>G (AKAP9) | XP_016867132.1:p.Arg3287Gly | |
| XM_017011644.2:c.9898A>G (AKAP9) | XP_016867133.1:p.Arg3300Gly | |
| XM_017011645.2:c.9844A>G (AKAP9) | XP_016867134.1:p.Arg3282Gly | |
| XM_017011646.2:c.9859A>G (AKAP9) | XP_016867135.1:p.Arg3287Gly | |
| XM_017011647.2:c.9805A>G (AKAP9) | XP_016867136.1:p.Arg3269Gly | |
| XM_017011648.2:c.9802A>G (AKAP9) | XP_016867137.1:p.Arg3268Gly | |
| XM_017011649.2:c.9835A>G (AKAP9) | XP_016867138.1:p.Arg3279Gly | |
| XM_017011650.2:c.9763A>G (AKAP9) | XP_016867139.1:p.Arg3255Gly | |
| XM_017011651.2:c.9757A>G (AKAP9) | XP_016867140.1:p.Arg3253Gly | |
| XM_017011652.2:c.9709A>G (AKAP9) | XP_016867141.1:p.Arg3237Gly | |
| XM_017011653.2:c.9670A>G (AKAP9) | XP_016867142.1:p.Arg3224Gly | |
| XM_017011654.2:c.9622A>G (AKAP9) | XP_016867143.1:p.Arg3208Gly | |
| XM_017011655.2:c.9526A>G (AKAP9) | XP_016867144.1:p.Arg3176Gly | |
| XM_017011656.2:c.9526A>G (AKAP9) | XP_016867145.1:p.Arg3176Gly | |
| XM_017011657.2:c.5563A>G (AKAP9) | XP_016867146.1:p.Arg1855Gly | |
| XM_017011658.2:c.4447A>G (AKAP9) | XP_016867147.1:p.Arg1483Gly | |
| XM_017011659.2:c.4408A>G (AKAP9) | XP_016867148.1:p.Arg1470Gly | |
| XM_017011660.2:c.4408A>G (AKAP9) | XP_016867149.1:p.Arg1470Gly | |
| XM_024446631.1:c.9661A>G (AKAP9) | XP_024302399.1:p.Arg3221Gly | |
| NM_147185.3:c.9739A>G (AKAP9) | NP_671714.1:p.Arg3247Gly | |
| NM_001379277.1:c.4408A>G (AKAP9) | NP_001366206.1:p.Arg1470Gly | |
| NM_005751.5:c.9763A>G (AKAP9) MANE Select | NP_005742.4:p.Arg3255Gly |