Linked Data
ClinVar Variation Id:
360853
dbSNP Id:
rs143306820
ExAC:
7:91732039 G / T
gnomAD v2:
7-91732039-G-T
gnomAD v3:
7-92102725-G-T
gnomAD v4:
7-92102725-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92102725G>T , CM000669.2:g.92102725G>T | GRCh38 |
| NC_000007.13:g.91732039G>T , CM000669.1:g.91732039G>T | GRCh37 |
| NC_000007.12:g.91569975G>T | NCBI36 |
| NG_011623.1:g.166851G>T , LRG_331:g.166851G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691309.1:c.1351+14319C>A (CYP51A1) | ENSP00000510368.1:n.1351+14319C>A | |
| ENST00000356239.8:c.11229G>T (AKAP9) MANE Select | ENSP00000348573.3:p.Met3743Ile | |
| ENST00000359028.7:c.11301G>T (AKAP9) | ENSP00000351922.4:p.Met3767Ile | |
| ENST00000394534.7:c.4221G>T (AKAP9) | ENSP00000378042.3:p.Met1407Ile | |
| ENST00000463118.2:n.484G>T (AKAP9) | ||
| ENST00000486313.2:c.717G>T (AKAP9) | ENSP00000505389.1:p.Met239Ile | |
| ENST00000487692.2:n.3175+1669G>T (AKAP9) | ||
| ENST00000491695.2:c.5874G>T (AKAP9) | ENSP00000494626.2:p.Met1958Ile | |
| ENST00000679448.1:c.*2109G>T (AKAP9) | ENSP00000505889.1:n.*2109G>T | |
| ENST00000679457.1:c.11205G>T (AKAP9) | ENSP00000505450.1:p.Met3735Ile | |
| ENST00000679474.1:n.12413G>T (AKAP9) | ||
| ENST00000679521.1:c.11175G>T (AKAP9) | ENSP00000505456.1:p.Met3725Ile | |
| ENST00000679821.1:c.10971G>T (AKAP9) | ENSP00000506040.1:p.Met3657Ile | |
| ENST00000680047.1:n.12899G>T (AKAP9) | ||
| ENST00000680072.1:c.11052G>T (AKAP9) | ENSP00000506581.1:p.Met3684Ile | |
| ENST00000680181.1:c.11136G>T (AKAP9) | ENSP00000505548.1:p.Met3712Ile | |
| ENST00000680365.1:c.4868G>T (AKAP9) | ENSP00000506019.1:n.4868G>T | |
| ENST00000680513.1:c.11088G>T (AKAP9) | ENSP00000505284.1:p.Met3696Ile | |
| ENST00000680534.1:c.11268G>T (AKAP9) | ENSP00000506674.1:p.Met3756Ile | |
| ENST00000680766.1:c.11205G>T (AKAP9) | ENSP00000505204.1:p.Met3735Ile | |
| ENST00000680952.1:c.11205G>T (AKAP9) | ENSP00000506407.1:p.Met3735Ile | |
| ENST00000681216.1:c.4989G>T (AKAP9) | ENSP00000505551.1:n.4989G>T | |
| ENST00000681412.1:c.11229G>T (AKAP9) | ENSP00000506486.1:p.Met3743Ile | |
| ENST00000681722.1:c.11205G>T (AKAP9) | ENSP00000506566.1:p.Met3735Ile | |
| ENST00000356239.7:c.11229G>T (AKAP9) | ENSP00000348573.3:p.Met3743Ile | |
| ENST00000359028.6:c.11238G>T (AKAP9) | ENSP00000351922.3:p.Met3746Ile | |
| ENST00000394534.6:c.4767G>T (AKAP9) | ENSP00000378042.2:p.Met1589Ile | |
| ENST00000463118.1:n.484G>T (AKAP9) | ||
| ENST00000486313.1:n.137G>T (AKAP9) | ||
| ENST00000487258.5:n.2979G>T (AKAP9) | ||
| NM_005751.4:c.11229G>T , LRG_331t1:c.11229G>T (AKAP9) | NP_005742.4:p.Met3743Ile | |
| NM_147185.2:c.11205G>T (AKAP9) | NP_671714.1:p.Met3735Ile | |
| XM_006715827.1:c.11088G>T (AKAP9) | XP_006715890.1:p.Met3696Ile | |
| XM_011515709.1:c.11376G>T (AKAP9) | XP_011514011.1:p.Met3792Ile | |
| XM_011515710.1:c.11400G>T (AKAP9) | XP_011514012.1:p.Met3800Ile | |
| XM_011515711.1:c.11340G>T (AKAP9) | XP_011514013.1:p.Met3780Ile | |
| XM_011515712.1:c.11337G>T (AKAP9) | XP_011514014.1:p.Met3779Ile | |
| XM_011515713.1:c.11322G>T (AKAP9) | XP_011514015.1:p.Met3774Ile | |
| XM_011515714.1:c.11361G>T (AKAP9) | XP_011514016.1:p.Met3787Ile | |
| XM_011515716.1:c.11280G>T (AKAP9) | XP_011514018.1:p.Met3760Ile | |
| XM_011515717.1:c.11235G>T (AKAP9) | XP_011514019.1:p.Met3745Ile | |
| XM_011515718.1:c.11265G>T (AKAP9) | XP_011514020.1:p.Met3755Ile | |
| XM_011515719.1:c.11241G>T (AKAP9) | XP_011514021.1:p.Met3747Ile | |
| XM_011515721.1:c.5889G>T (AKAP9) | XP_011514023.1:p.Met1963Ile | |
| XM_011515722.1:c.5850G>T (AKAP9) | XP_011514024.1:p.Met1950Ile | |
| XM_017011642.2:c.11364G>T (AKAP9) | XP_016867131.1:p.Met3788Ile | |
| XM_017011643.2:c.11325G>T (AKAP9) | XP_016867132.1:p.Met3775Ile | |
| XM_017011644.2:c.11364G>T (AKAP9) | XP_016867133.1:p.Met3788Ile | |
| XM_017011645.2:c.11310G>T (AKAP9) | XP_016867134.1:p.Met3770Ile | |
| XM_017011646.2:c.11325G>T (AKAP9) | XP_016867135.1:p.Met3775Ile | |
| XM_017011647.2:c.11271G>T (AKAP9) | XP_016867136.1:p.Met3757Ile | |
| XM_017011648.2:c.11268G>T (AKAP9) | XP_016867137.1:p.Met3756Ile | |
| XM_017011649.2:c.11301G>T (AKAP9) | XP_016867138.1:p.Met3767Ile | |
| XM_017011650.2:c.11229G>T (AKAP9) | XP_016867139.1:p.Met3743Ile | |
| XM_017011651.2:c.11223G>T (AKAP9) | XP_016867140.1:p.Met3741Ile | |
| XM_017011652.2:c.11175G>T (AKAP9) | XP_016867141.1:p.Met3725Ile | |
| XM_017011653.2:c.11136G>T (AKAP9) | XP_016867142.1:p.Met3712Ile | |
| XM_017011654.2:c.11088G>T (AKAP9) | XP_016867143.1:p.Met3696Ile | |
| XM_017011655.2:c.10992G>T (AKAP9) | XP_016867144.1:p.Met3664Ile | |
| XM_017011656.2:c.10992G>T (AKAP9) | XP_016867145.1:p.Met3664Ile | |
| XM_017011657.2:c.7029G>T (AKAP9) | XP_016867146.1:p.Met2343Ile | |
| XM_017011658.2:c.5913G>T (AKAP9) | XP_016867147.1:p.Met1971Ile | |
| XM_017011659.2:c.5874G>T (AKAP9) | XP_016867148.1:p.Met1958Ile | |
| XM_017011660.2:c.5874G>T (AKAP9) | XP_016867149.1:p.Met1958Ile | |
| XM_024446631.1:c.11127G>T (AKAP9) | XP_024302399.1:p.Met3709Ile | |
| NM_147185.3:c.11205G>T (AKAP9) | NP_671714.1:p.Met3735Ile | |
| NM_001379277.1:c.5874G>T (AKAP9) | NP_001366206.1:p.Met1958Ile | |
| NM_005751.5:c.11229G>T (AKAP9) MANE Select | NP_005742.4:p.Met3743Ile |