Linked Data
ClinVar Variation Id:
360848
dbSNP Id:
rs112467497
ExAC:
7:91727408 G / C
gnomAD v2:
7-91727408-G-C
gnomAD v3:
7-92098094-G-C
gnomAD v4:
7-92098094-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92098094G>C , CM000669.2:g.92098094G>C | GRCh38 |
| NC_000007.13:g.91727408G>C , CM000669.1:g.91727408G>C | GRCh37 |
| NC_000007.12:g.91565344G>C | NCBI36 |
| NG_011623.1:g.162220G>C , LRG_331:g.162220G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691309.1:c.1352-12492C>G (CYP51A1) | ENSP00000510368.1:n.1352-12492C>G | |
| ENST00000356239.8:c.10608-15G>C (AKAP9) MANE Select | ENSP00000348573.3:n.10608-15G>C | |
| ENST00000359028.7:c.10680-15G>C (AKAP9) | ENSP00000351922.4:n.10680-15G>C | |
| ENST00000394534.7:c.3600-15G>C (AKAP9) | ENSP00000378042.3:n.3600-15G>C | |
| ENST00000486313.2:c.96-15G>C (AKAP9) | ENSP00000505389.1:n.96-15G>C | |
| ENST00000487692.2:n.2686-15G>C (AKAP9) | ||
| ENST00000491695.2:c.5253-15G>C (AKAP9) | ENSP00000494626.2:n.5253-15G>C | |
| ENST00000679448.1:c.*1488-15G>C (AKAP9) | ENSP00000505889.1:n.*1488-15G>C | |
| ENST00000679457.1:c.10584-15G>C (AKAP9) | ENSP00000505450.1:n.10584-15G>C | |
| ENST00000679474.1:n.10806-15G>C (AKAP9) | ||
| ENST00000679521.1:c.10554-15G>C (AKAP9) | ENSP00000505456.1:n.10554-15G>C | |
| ENST00000679821.1:c.10350-15G>C (AKAP9) | ENSP00000506040.1:n.10350-15G>C | |
| ENST00000680047.1:n.10806-15G>C (AKAP9) | ||
| ENST00000680072.1:c.10431-15G>C (AKAP9) | ENSP00000506581.1:n.10431-15G>C | |
| ENST00000680181.1:c.10515-15G>C (AKAP9) | ENSP00000505548.1:n.10515-15G>C | |
| ENST00000680365.1:c.4247-15G>C (AKAP9) | ENSP00000506019.1:n.4247-15G>C | |
| ENST00000680513.1:c.10467-15G>C (AKAP9) | ENSP00000505284.1:n.10467-15G>C | |
| ENST00000680534.1:c.10647-15G>C (AKAP9) | ENSP00000506674.1:n.10647-15G>C | |
| ENST00000680766.1:c.10584-15G>C (AKAP9) | ENSP00000505204.1:n.10584-15G>C | |
| ENST00000680952.1:c.10584-15G>C (AKAP9) | ENSP00000506407.1:n.10584-15G>C | |
| ENST00000681216.1:c.4368-15G>C (AKAP9) | ENSP00000505551.1:n.4368-15G>C | |
| ENST00000681412.1:c.10608-15G>C (AKAP9) | ENSP00000506486.1:n.10608-15G>C | |
| ENST00000681722.1:c.10584-15G>C (AKAP9) | ENSP00000506566.1:n.10584-15G>C | |
| ENST00000356239.7:c.10608-15G>C (AKAP9) | ENSP00000348573.3:n.10608-15G>C | |
| ENST00000359028.6:c.10617-15G>C (AKAP9) | ENSP00000351922.3:n.10617-15G>C | |
| ENST00000394534.6:c.4146-15G>C (AKAP9) | ENSP00000378042.2:n.4146-15G>C | |
| ENST00000487258.5:n.2358-15G>C (AKAP9) | ||
| ENST00000487692.1:n.408-15G>C (AKAP9) | ||
| NM_005751.4:c.10608-15G>C , LRG_331t1:c.10608-15G>C (AKAP9) | NP_005742.4:n.10608-15G>C | |
| NM_147185.2:c.10584-15G>C (AKAP9) | NP_671714.1:n.10584-15G>C | |
| XM_006715827.1:c.10467-15G>C (AKAP9) | XP_006715890.1:n.10467-15G>C | |
| XM_011515709.1:c.10755-15G>C (AKAP9) | XP_011514011.1:n.10755-15G>C | |
| XM_011515710.1:c.10779-15G>C (AKAP9) | XP_011514012.1:n.10779-15G>C | |
| XM_011515711.1:c.10719-15G>C (AKAP9) | XP_011514013.1:n.10719-15G>C | |
| XM_011515712.1:c.10716-15G>C (AKAP9) | XP_011514014.1:n.10716-15G>C | |
| XM_011515713.1:c.10701-15G>C (AKAP9) | XP_011514015.1:n.10701-15G>C | |
| XM_011515714.1:c.10740-15G>C (AKAP9) | XP_011514016.1:n.10740-15G>C | |
| XM_011515716.1:c.10659-15G>C (AKAP9) | XP_011514018.1:n.10659-15G>C | |
| XM_011515717.1:c.10614-15G>C (AKAP9) | XP_011514019.1:n.10614-15G>C | |
| XM_011515718.1:c.10644-15G>C (AKAP9) | XP_011514020.1:n.10644-15G>C | |
| XM_011515719.1:c.10620-15G>C (AKAP9) | XP_011514021.1:n.10620-15G>C | |
| XM_011515721.1:c.5268-15G>C (AKAP9) | XP_011514023.1:n.5268-15G>C | |
| XM_011515722.1:c.5229-15G>C (AKAP9) | XP_011514024.1:n.5229-15G>C | |
| XM_017011642.2:c.10743-15G>C (AKAP9) | XP_016867131.1:n.10743-15G>C | |
| XM_017011643.2:c.10704-15G>C (AKAP9) | XP_016867132.1:n.10704-15G>C | |
| XM_017011644.2:c.10743-15G>C (AKAP9) | XP_016867133.1:n.10743-15G>C | |
| XM_017011645.2:c.10689-15G>C (AKAP9) | XP_016867134.1:n.10689-15G>C | |
| XM_017011646.2:c.10704-15G>C (AKAP9) | XP_016867135.1:n.10704-15G>C | |
| XM_017011647.2:c.10650-15G>C (AKAP9) | XP_016867136.1:n.10650-15G>C | |
| XM_017011648.2:c.10647-15G>C (AKAP9) | XP_016867137.1:n.10647-15G>C | |
| XM_017011649.2:c.10680-15G>C (AKAP9) | XP_016867138.1:n.10680-15G>C | |
| XM_017011650.2:c.10608-15G>C (AKAP9) | XP_016867139.1:n.10608-15G>C | |
| XM_017011651.2:c.10602-15G>C (AKAP9) | XP_016867140.1:n.10602-15G>C | |
| XM_017011652.2:c.10554-15G>C (AKAP9) | XP_016867141.1:n.10554-15G>C | |
| XM_017011653.2:c.10515-15G>C (AKAP9) | XP_016867142.1:n.10515-15G>C | |
| XM_017011654.2:c.10467-15G>C (AKAP9) | XP_016867143.1:n.10467-15G>C | |
| XM_017011655.2:c.10371-15G>C (AKAP9) | XP_016867144.1:n.10371-15G>C | |
| XM_017011656.2:c.10371-15G>C (AKAP9) | XP_016867145.1:n.10371-15G>C | |
| XM_017011657.2:c.6408-15G>C (AKAP9) | XP_016867146.1:n.6408-15G>C | |
| XM_017011658.2:c.5292-15G>C (AKAP9) | XP_016867147.1:n.5292-15G>C | |
| XM_017011659.2:c.5253-15G>C (AKAP9) | XP_016867148.1:n.5253-15G>C | |
| XM_017011660.2:c.5253-15G>C (AKAP9) | XP_016867149.1:n.5253-15G>C | |
| XM_024446631.1:c.10506-15G>C (AKAP9) | XP_024302399.1:n.10506-15G>C | |
| NM_147185.3:c.10584-15G>C (AKAP9) | NP_671714.1:n.10584-15G>C | |
| NM_001379277.1:c.5253-15G>C (AKAP9) | NP_001366206.1:n.5253-15G>C | |
| NM_005751.5:c.10608-15G>C (AKAP9) MANE Select | NP_005742.4:n.10608-15G>C |