Linked Data
ClinVar Variation Id:
191398
dbSNP Id:
rs77447750
ExAC:
7:91739463 T / C
gnomAD v2:
7-91739463-T-C
gnomAD v3:
7-92110149-T-C
gnomAD v4:
7-92110149-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92110149T>C , CM000669.2:g.92110149T>C | GRCh38 |
| NC_000007.13:g.91739463T>C , CM000669.1:g.91739463T>C | GRCh37 |
| NC_000007.12:g.91577399T>C | NCBI36 |
| NG_007968.1:g.29378A>G | |
| NG_011623.1:g.174275T>C , LRG_331:g.174275T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+6895A>G (CYP51A1) | ENSP00000510368.1:n.1351+6895A>G | |
| ENST00000356239.8:c.11714T>C (AKAP9) MANE Select | ENSP00000348573.3:p.Met3905Thr | |
| ENST00000359028.7:c.11786T>C (AKAP9) | ENSP00000351922.4:p.Met3929Thr | |
| ENST00000394534.7:c.4706T>C (AKAP9) | ENSP00000378042.3:p.Met1569Thr | |
| ENST00000486313.2:c.846T>C (AKAP9) | ENSP00000505389.1:p.His282= | |
| ENST00000487692.2:n.3473T>C (AKAP9) | ||
| ENST00000491695.2:c.6359T>C (AKAP9) | ENSP00000494626.2:p.Met2120Thr | |
| ENST00000679448.1:c.*2594T>C (AKAP9) | ENSP00000505889.1:n.*2594T>C | |
| ENST00000679457.1:c.*1770T>C (AKAP9) | ENSP00000505450.1:n.*1770T>C | |
| ENST00000679474.1:n.12898T>C (AKAP9) | ||
| ENST00000679521.1:c.11660T>C (AKAP9) | ENSP00000505456.1:p.Met3887Thr | |
| ENST00000679821.1:c.11456T>C (AKAP9) | ENSP00000506040.1:p.Met3819Thr | |
| ENST00000680047.1:n.13384T>C (AKAP9) | ||
| ENST00000680072.1:c.11537T>C (AKAP9) | ENSP00000506581.1:p.Met3846Thr | |
| ENST00000680181.1:c.11621T>C (AKAP9) | ENSP00000505548.1:p.Met3874Thr | |
| ENST00000680365.1:c.5353T>C (AKAP9) | ENSP00000506019.1:n.5353T>C | |
| ENST00000680513.1:c.11573T>C (AKAP9) | ENSP00000505284.1:p.Met3858Thr | |
| ENST00000680534.1:c.11753T>C (AKAP9) | ENSP00000506674.1:p.Met3918Thr | |
| ENST00000680766.1:c.11690T>C (AKAP9) | ENSP00000505204.1:p.Met3897Thr | |
| ENST00000680952.1:c.11474T>C (AKAP9) | ENSP00000506407.1:p.Met3825Thr | |
| ENST00000681216.1:c.5474T>C (AKAP9) | ENSP00000505551.1:n.5474T>C | |
| ENST00000681412.1:c.*1430T>C (AKAP9) | ENSP00000506486.1:n.*1430T>C | |
| ENST00000356239.7:c.11714T>C (AKAP9) | ENSP00000348573.3:p.Met3905Thr | |
| ENST00000359028.6:c.11723T>C (AKAP9) | ENSP00000351922.3:p.Met3908Thr | |
| ENST00000486313.1:n.266T>C (AKAP9) | ||
| ENST00000487258.5:n.3464T>C (AKAP9) | ||
| NM_005751.4:c.11714T>C , LRG_331t1:c.11714T>C (AKAP9) | NP_005742.4:p.Met3905Thr | |
| NM_147185.2:c.11690T>C (AKAP9) | NP_671714.1:p.Met3897Thr | |
| XM_006715827.1:c.11573T>C (AKAP9) | XP_006715890.1:p.Met3858Thr | |
| XM_011515710.1:c.11885T>C (AKAP9) | XP_011514012.1:p.Met3962Thr | |
| XM_011515714.1:c.11846T>C (AKAP9) | XP_011514016.1:p.Met3949Thr | |
| XM_011515718.1:c.11750T>C (AKAP9) | XP_011514020.1:p.Met3917Thr | |
| XM_011515719.1:c.11726T>C (AKAP9) | XP_011514021.1:p.Met3909Thr | |
| XM_017011642.2:c.*1430T>C (AKAP9) | XP_016867131.1:n.*1430T>C | |
| XM_017011643.2:c.*1430T>C (AKAP9) | XP_016867132.1:n.*1430T>C | |
| XM_017011644.2:c.11849T>C (AKAP9) | XP_016867133.1:p.Met3950Thr | |
| XM_017011645.2:c.*1430T>C (AKAP9) | XP_016867134.1:n.*1430T>C | |
| XM_017011646.2:c.11810T>C (AKAP9) | XP_016867135.1:p.Met3937Thr | |
| XM_017011647.2:c.*1430T>C (AKAP9) | XP_016867136.1:n.*1430T>C | |
| XM_017011648.2:c.*1430T>C (AKAP9) | XP_016867137.1:n.*1430T>C | |
| XM_017011649.2:c.11786T>C (AKAP9) | XP_016867138.1:p.Met3929Thr | |
| XM_017011650.2:c.*1430T>C (AKAP9) | XP_016867139.1:n.*1430T>C | |
| XM_017011651.2:c.*1430T>C (AKAP9) | XP_016867140.1:n.*1430T>C | |
| XM_017011652.2:c.*1430T>C (AKAP9) | XP_016867141.1:n.*1430T>C | |
| XM_017011653.2:c.*1430T>C (AKAP9) | XP_016867142.1:n.*1430T>C | |
| XM_017011654.2:c.*1430T>C (AKAP9) | XP_016867143.1:n.*1430T>C | |
| XM_017011655.2:c.*1430T>C (AKAP9) | XP_016867144.1:n.*1430T>C | |
| XM_017011656.2:c.*1430T>C (AKAP9) | XP_016867145.1:n.*1430T>C | |
| XM_017011657.2:c.*1430T>C (AKAP9) | XP_016867146.1:n.*1430T>C | |
| XM_017011658.2:c.*1430T>C (AKAP9) | XP_016867147.1:n.*1430T>C | |
| XM_017011659.2:c.*1430T>C (AKAP9) | XP_016867148.1:n.*1430T>C | |
| XM_017011660.2:c.6359T>C (AKAP9) | XP_016867149.1:p.Met2120Thr | |
| XM_024446631.1:c.*1430T>C (AKAP9) | XP_024302399.1:n.*1430T>C | |
| NM_147185.3:c.11690T>C (AKAP9) | NP_671714.1:p.Met3897Thr | |
| NM_001379277.1:c.6359T>C (AKAP9) | NP_001366206.1:p.Met2120Thr | |
| NM_005751.5:c.11714T>C (AKAP9) MANE Select | NP_005742.4:p.Met3905Thr |