Linked Data
ClinVar Variation Id:
191526
ClinVar RCV Id:
RCV000171729
RCV000250716
RCV000304827
RCV000361837
RCV000185546
RCV002509278
RCV003937537
dbSNP Id:
rs61757664
ExAC:
7:91726960 G / A
gnomAD v2:
7-91726960-G-A
gnomAD v3:
7-92097646-G-A
gnomAD v4:
7-92097646-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92097646G>A , CM000669.2:g.92097646G>A | GRCh38 |
| NC_000007.13:g.91726960G>A , CM000669.1:g.91726960G>A | GRCh37 |
| NC_000007.12:g.91564896G>A | NCBI36 |
| NG_011623.1:g.161772G>A , LRG_331:g.161772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1352-12044C>T (CYP51A1) | ENSP00000510368.1:n.1352-12044C>T | |
| ENST00000356239.8:c.10459G>A (AKAP9) MANE Select | ENSP00000348573.3:p.Glu3487Lys | |
| ENST00000359028.7:c.10531G>A (AKAP9) | ENSP00000351922.4:p.Glu3511Lys | |
| ENST00000394534.7:c.3451G>A (AKAP9) | ENSP00000378042.3:p.Glu1151Lys | |
| ENST00000487692.2:n.2537G>A (AKAP9) | ||
| ENST00000491695.2:c.5104G>A (AKAP9) | ENSP00000494626.2:p.Glu1702Lys | |
| ENST00000679448.1:c.*1339G>A (AKAP9) | ENSP00000505889.1:n.*1339G>A | |
| ENST00000679457.1:c.10435G>A (AKAP9) | ENSP00000505450.1:p.Glu3479Lys | |
| ENST00000679474.1:n.10657G>A (AKAP9) | ||
| ENST00000679521.1:c.10405G>A (AKAP9) | ENSP00000505456.1:p.Glu3469Lys | |
| ENST00000679821.1:c.10201G>A (AKAP9) | ENSP00000506040.1:p.Glu3401Lys | |
| ENST00000680047.1:n.10657G>A (AKAP9) | ||
| ENST00000680072.1:c.10282G>A (AKAP9) | ENSP00000506581.1:p.Glu3428Lys | |
| ENST00000680181.1:c.10366G>A (AKAP9) | ENSP00000505548.1:p.Glu3456Lys | |
| ENST00000680365.1:c.4098G>A (AKAP9) | ENSP00000506019.1:n.4098G>A | |
| ENST00000680513.1:c.10318G>A (AKAP9) | ENSP00000505284.1:p.Glu3440Lys | |
| ENST00000680534.1:c.10498G>A (AKAP9) | ENSP00000506674.1:p.Glu3500Lys | |
| ENST00000680766.1:c.10435G>A (AKAP9) | ENSP00000505204.1:p.Glu3479Lys | |
| ENST00000680952.1:c.10435G>A (AKAP9) | ENSP00000506407.1:p.Glu3479Lys | |
| ENST00000681216.1:c.4219G>A (AKAP9) | ENSP00000505551.1:n.4219G>A | |
| ENST00000681412.1:c.10459G>A (AKAP9) | ENSP00000506486.1:p.Glu3487Lys | |
| ENST00000681722.1:c.10435G>A (AKAP9) | ENSP00000506566.1:p.Glu3479Lys | |
| ENST00000356239.7:c.10459G>A (AKAP9) | ENSP00000348573.3:p.Glu3487Lys | |
| ENST00000359028.6:c.10468G>A (AKAP9) | ENSP00000351922.3:p.Glu3490Lys | |
| ENST00000394534.6:c.3997G>A (AKAP9) | ENSP00000378042.2:p.Glu1333Lys | |
| ENST00000487258.5:n.2209G>A (AKAP9) | ||
| ENST00000487692.1:n.259G>A (AKAP9) | ||
| NM_005751.4:c.10459G>A , LRG_331t1:c.10459G>A (AKAP9) | NP_005742.4:p.Glu3487Lys | |
| NM_147185.2:c.10435G>A (AKAP9) | NP_671714.1:p.Glu3479Lys | |
| XM_006715827.1:c.10318G>A (AKAP9) | XP_006715890.1:p.Glu3440Lys | |
| XM_011515709.1:c.10606G>A (AKAP9) | XP_011514011.1:p.Glu3536Lys | |
| XM_011515710.1:c.10630G>A (AKAP9) | XP_011514012.1:p.Glu3544Lys | |
| XM_011515711.1:c.10570G>A (AKAP9) | XP_011514013.1:p.Glu3524Lys | |
| XM_011515712.1:c.10567G>A (AKAP9) | XP_011514014.1:p.Glu3523Lys | |
| XM_011515713.1:c.10552G>A (AKAP9) | XP_011514015.1:p.Glu3518Lys | |
| XM_011515714.1:c.10591G>A (AKAP9) | XP_011514016.1:p.Glu3531Lys | |
| XM_011515716.1:c.10510G>A (AKAP9) | XP_011514018.1:p.Glu3504Lys | |
| XM_011515717.1:c.10465G>A (AKAP9) | XP_011514019.1:p.Glu3489Lys | |
| XM_011515718.1:c.10495G>A (AKAP9) | XP_011514020.1:p.Glu3499Lys | |
| XM_011515719.1:c.10471G>A (AKAP9) | XP_011514021.1:p.Glu3491Lys | |
| XM_011515721.1:c.5119G>A (AKAP9) | XP_011514023.1:p.Glu1707Lys | |
| XM_011515722.1:c.5080G>A (AKAP9) | XP_011514024.1:p.Glu1694Lys | |
| XM_017011642.2:c.10594G>A (AKAP9) | XP_016867131.1:p.Glu3532Lys | |
| XM_017011643.2:c.10555G>A (AKAP9) | XP_016867132.1:p.Glu3519Lys | |
| XM_017011644.2:c.10594G>A (AKAP9) | XP_016867133.1:p.Glu3532Lys | |
| XM_017011645.2:c.10540G>A (AKAP9) | XP_016867134.1:p.Glu3514Lys | |
| XM_017011646.2:c.10555G>A (AKAP9) | XP_016867135.1:p.Glu3519Lys | |
| XM_017011647.2:c.10501G>A (AKAP9) | XP_016867136.1:p.Glu3501Lys | |
| XM_017011648.2:c.10498G>A (AKAP9) | XP_016867137.1:p.Glu3500Lys | |
| XM_017011649.2:c.10531G>A (AKAP9) | XP_016867138.1:p.Glu3511Lys | |
| XM_017011650.2:c.10459G>A (AKAP9) | XP_016867139.1:p.Glu3487Lys | |
| XM_017011651.2:c.10453G>A (AKAP9) | XP_016867140.1:p.Glu3485Lys | |
| XM_017011652.2:c.10405G>A (AKAP9) | XP_016867141.1:p.Glu3469Lys | |
| XM_017011653.2:c.10366G>A (AKAP9) | XP_016867142.1:p.Glu3456Lys | |
| XM_017011654.2:c.10318G>A (AKAP9) | XP_016867143.1:p.Glu3440Lys | |
| XM_017011655.2:c.10222G>A (AKAP9) | XP_016867144.1:p.Glu3408Lys | |
| XM_017011656.2:c.10222G>A (AKAP9) | XP_016867145.1:p.Glu3408Lys | |
| XM_017011657.2:c.6259G>A (AKAP9) | XP_016867146.1:p.Glu2087Lys | |
| XM_017011658.2:c.5143G>A (AKAP9) | XP_016867147.1:p.Glu1715Lys | |
| XM_017011659.2:c.5104G>A (AKAP9) | XP_016867148.1:p.Glu1702Lys | |
| XM_017011660.2:c.5104G>A (AKAP9) | XP_016867149.1:p.Glu1702Lys | |
| XM_024446631.1:c.10357G>A (AKAP9) | XP_024302399.1:p.Glu3453Lys | |
| NM_147185.3:c.10435G>A (AKAP9) | NP_671714.1:p.Glu3479Lys | |
| NM_001379277.1:c.5104G>A (AKAP9) | NP_001366206.1:p.Glu1702Lys | |
| NM_005751.5:c.10459G>A (AKAP9) MANE Select | NP_005742.4:p.Glu3487Lys |