UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs753744448
ExAC:
7:91729037 T / C
gnomAD v2:
7-91729037-T-C
gnomAD v4:
7-92099723-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92099723T>C , CM000669.2:g.92099723T>C | GRCh38 |
| NC_000007.13:g.91729037T>C , CM000669.1:g.91729037T>C | GRCh37 |
| NC_000007.12:g.91566973T>C | NCBI36 |
| NG_011623.1:g.163849T>C , LRG_331:g.163849T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691309.1:c.1352-14121A>G (CYP51A1) | ENSP00000510368.1:n.1352-14121A>G | |
| ENST00000356239.8:c.10750T>C (AKAP9) MANE Select | ENSP00000348573.3:p.Leu3584= | |
| ENST00000359028.7:c.10822T>C (AKAP9) | ENSP00000351922.4:p.Leu3608= | |
| ENST00000394534.7:c.3742T>C (AKAP9) | ENSP00000378042.3:p.Leu1248= | |
| ENST00000463118.2:n.98T>C (AKAP9) | ||
| ENST00000486313.2:c.238T>C (AKAP9) | ENSP00000505389.1:p.Leu80= | |
| ENST00000487692.2:n.2828T>C (AKAP9) | ||
| ENST00000491695.2:c.5395T>C (AKAP9) | ENSP00000494626.2:p.Leu1799= | |
| ENST00000679448.1:c.*1630T>C (AKAP9) | ENSP00000505889.1:n.*1630T>C | |
| ENST00000679457.1:c.10726T>C (AKAP9) | ENSP00000505450.1:p.Leu3576= | |
| ENST00000679474.1:n.10948T>C (AKAP9) | ||
| ENST00000679521.1:c.10696T>C (AKAP9) | ENSP00000505456.1:p.Leu3566= | |
| ENST00000679821.1:c.10492T>C (AKAP9) | ENSP00000506040.1:p.Leu3498= | |
| ENST00000680047.1:n.12420T>C (AKAP9) | ||
| ENST00000680072.1:c.10573T>C (AKAP9) | ENSP00000506581.1:p.Leu3525= | |
| ENST00000680181.1:c.10657T>C (AKAP9) | ENSP00000505548.1:p.Leu3553= | |
| ENST00000680365.1:c.4389T>C (AKAP9) | ENSP00000506019.1:n.4389T>C | |
| ENST00000680513.1:c.10609T>C (AKAP9) | ENSP00000505284.1:p.Leu3537= | |
| ENST00000680534.1:c.10789T>C (AKAP9) | ENSP00000506674.1:p.Leu3597= | |
| ENST00000680766.1:c.10726T>C (AKAP9) | ENSP00000505204.1:p.Leu3576= | |
| ENST00000680952.1:c.10726T>C (AKAP9) | ENSP00000506407.1:p.Leu3576= | |
| ENST00000681216.1:c.4510T>C (AKAP9) | ENSP00000505551.1:n.4510T>C | |
| ENST00000681412.1:c.10750T>C (AKAP9) | ENSP00000506486.1:p.Leu3584= | |
| ENST00000681722.1:c.10726T>C (AKAP9) | ENSP00000506566.1:p.Leu3576= | |
| ENST00000356239.7:c.10750T>C (AKAP9) | ENSP00000348573.3:p.Leu3584= | |
| ENST00000359028.6:c.10759T>C (AKAP9) | ENSP00000351922.3:p.Leu3587= | |
| ENST00000394534.6:c.4288T>C (AKAP9) | ENSP00000378042.2:p.Leu1430= | |
| ENST00000463118.1:n.98T>C (AKAP9) | ||
| ENST00000487258.5:n.2500T>C (AKAP9) | ||
| ENST00000487692.1:n.550T>C (AKAP9) | ||
| NM_005751.4:c.10750T>C , LRG_331t1:c.10750T>C (AKAP9) | NP_005742.4:p.Leu3584= | |
| NM_147185.2:c.10726T>C (AKAP9) | NP_671714.1:p.Leu3576= | |
| XM_006715827.1:c.10609T>C (AKAP9) | XP_006715890.1:p.Leu3537= | |
| XM_011515709.1:c.10897T>C (AKAP9) | XP_011514011.1:p.Leu3633= | |
| XM_011515710.1:c.10921T>C (AKAP9) | XP_011514012.1:p.Leu3641= | |
| XM_011515711.1:c.10861T>C (AKAP9) | XP_011514013.1:p.Leu3621= | |
| XM_011515712.1:c.10858T>C (AKAP9) | XP_011514014.1:p.Leu3620= | |
| XM_011515713.1:c.10843T>C (AKAP9) | XP_011514015.1:p.Leu3615= | |
| XM_011515714.1:c.10882T>C (AKAP9) | XP_011514016.1:p.Leu3628= | |
| XM_011515716.1:c.10801T>C (AKAP9) | XP_011514018.1:p.Leu3601= | |
| XM_011515717.1:c.10756T>C (AKAP9) | XP_011514019.1:p.Leu3586= | |
| XM_011515718.1:c.10786T>C (AKAP9) | XP_011514020.1:p.Leu3596= | |
| XM_011515719.1:c.10762T>C (AKAP9) | XP_011514021.1:p.Leu3588= | |
| XM_011515721.1:c.5410T>C (AKAP9) | XP_011514023.1:p.Leu1804= | |
| XM_011515722.1:c.5371T>C (AKAP9) | XP_011514024.1:p.Leu1791= | |
| XM_017011642.2:c.10885T>C (AKAP9) | XP_016867131.1:p.Leu3629= | |
| XM_017011643.2:c.10846T>C (AKAP9) | XP_016867132.1:p.Leu3616= | |
| XM_017011644.2:c.10885T>C (AKAP9) | XP_016867133.1:p.Leu3629= | |
| XM_017011645.2:c.10831T>C (AKAP9) | XP_016867134.1:p.Leu3611= | |
| XM_017011646.2:c.10846T>C (AKAP9) | XP_016867135.1:p.Leu3616= | |
| XM_017011647.2:c.10792T>C (AKAP9) | XP_016867136.1:p.Leu3598= | |
| XM_017011648.2:c.10789T>C (AKAP9) | XP_016867137.1:p.Leu3597= | |
| XM_017011649.2:c.10822T>C (AKAP9) | XP_016867138.1:p.Leu3608= | |
| XM_017011650.2:c.10750T>C (AKAP9) | XP_016867139.1:p.Leu3584= | |
| XM_017011651.2:c.10744T>C (AKAP9) | XP_016867140.1:p.Leu3582= | |
| XM_017011652.2:c.10696T>C (AKAP9) | XP_016867141.1:p.Leu3566= | |
| XM_017011653.2:c.10657T>C (AKAP9) | XP_016867142.1:p.Leu3553= | |
| XM_017011654.2:c.10609T>C (AKAP9) | XP_016867143.1:p.Leu3537= | |
| XM_017011655.2:c.10513T>C (AKAP9) | XP_016867144.1:p.Leu3505= | |
| XM_017011656.2:c.10513T>C (AKAP9) | XP_016867145.1:p.Leu3505= | |
| XM_017011657.2:c.6550T>C (AKAP9) | XP_016867146.1:p.Leu2184= | |
| XM_017011658.2:c.5434T>C (AKAP9) | XP_016867147.1:p.Leu1812= | |
| XM_017011659.2:c.5395T>C (AKAP9) | XP_016867148.1:p.Leu1799= | |
| XM_017011660.2:c.5395T>C (AKAP9) | XP_016867149.1:p.Leu1799= | |
| XM_024446631.1:c.10648T>C (AKAP9) | XP_024302399.1:p.Leu3550= | |
| NM_147185.3:c.10726T>C (AKAP9) | NP_671714.1:p.Leu3576= | |
| NM_001379277.1:c.5395T>C (AKAP9) | NP_001366206.1:p.Leu1799= | |
| NM_005751.5:c.10750T>C (AKAP9) MANE Select | NP_005742.4:p.Leu3584= |