Linked Data
ClinVar Variation Id:
180264
dbSNP Id:
rs138468216
ExAC:
7:91708761 A / T
gnomAD v2:
7-91708761-A-T
gnomAD v3:
7-92079447-A-T
gnomAD v4:
7-92079447-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92079447A>T , CM000669.2:g.92079447A>T | GRCh38 |
| NC_000007.13:g.91708761A>T , CM000669.1:g.91708761A>T | GRCh37 |
| NC_000007.12:g.91546697A>T | NCBI36 |
| NG_011623.1:g.143573A>T , LRG_331:g.143573A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.7314A>T MANE Select | ENSP00000348573.3:p.Glu2438Asp | |
| ENST00000359028.7:c.7386A>T | ENSP00000351922.4:p.Glu2462Asp | |
| ENST00000394534.7:c.807A>T | ENSP00000378042.3:p.Glu269Asp | |
| ENST00000491695.2:c.1959A>T | ENSP00000494626.2:p.Glu653Asp | |
| ENST00000674381.2:c.*7043A>T | ENSP00000501536.2:n.*7043A>T | |
| ENST00000679448.1:c.7290A>T | ENSP00000505889.1:p.Glu2430Asp | |
| ENST00000679457.1:c.7290A>T | ENSP00000505450.1:p.Glu2430Asp | |
| ENST00000679474.1:n.7512A>T | ||
| ENST00000679521.1:c.7260A>T | ENSP00000505456.1:p.Glu2420Asp | |
| ENST00000679554.1:c.*7099A>T | ENSP00000506415.1:n.*7099A>T | |
| ENST00000679722.1:n.7536A>T | ||
| ENST00000679821.1:c.7056A>T | ENSP00000506040.1:p.Glu2352Asp | |
| ENST00000680047.1:n.7512A>T | ||
| ENST00000680072.1:c.7137A>T | ENSP00000506581.1:p.Glu2379Asp | |
| ENST00000680181.1:c.7221A>T | ENSP00000505548.1:p.Glu2407Asp | |
| ENST00000680365.1:c.807A>T | ENSP00000506019.1:p.Glu269Asp | |
| ENST00000680513.1:c.7173A>T | ENSP00000505284.1:p.Glu2391Asp | |
| ENST00000680534.1:c.7353A>T | ENSP00000506674.1:p.Glu2451Asp | |
| ENST00000680766.1:c.7290A>T | ENSP00000505204.1:p.Glu2430Asp | |
| ENST00000680952.1:c.7290A>T | ENSP00000506407.1:p.Glu2430Asp | |
| ENST00000681216.1:c.807A>T | ENSP00000505551.1:p.Glu269Asp | |
| ENST00000681412.1:c.7314A>T | ENSP00000506486.1:p.Glu2438Asp | |
| ENST00000681722.1:c.7290A>T | ENSP00000506566.1:p.Glu2430Asp | |
| ENST00000356239.7:c.7314A>T | ENSP00000348573.3:p.Glu2438Asp | |
| ENST00000358100.6:c.7173A>T | ENSP00000350813.3:p.Glu2391Asp | |
| ENST00000359028.6:c.7347A>T | ENSP00000351922.3:p.Glu2449Asp | |
| ENST00000394534.6:c.852A>T | ENSP00000378042.2:p.Glu284Asp | |
| NM_005751.4:c.7314A>T , LRG_331t1:c.7314A>T | NP_005742.4:p.Glu2438Asp | |
| NM_147185.2:c.7290A>T | NP_671714.1:p.Glu2430Asp | |
| XM_006715827.1:c.7173A>T | XP_006715890.1:p.Glu2391Asp | |
| XM_011515709.1:c.7461A>T | XP_011514011.1:p.Glu2487Asp | |
| XM_011515710.1:c.7485A>T | XP_011514012.1:p.Glu2495Asp | |
| XM_011515711.1:c.7425A>T | XP_011514013.1:p.Glu2475Asp | |
| XM_011515712.1:c.7422A>T | XP_011514014.1:p.Glu2474Asp | |
| XM_011515713.1:c.7407A>T | XP_011514015.1:p.Glu2469Asp | |
| XM_011515714.1:c.7446A>T | XP_011514016.1:p.Glu2482Asp | |
| XM_011515716.1:c.7365A>T | XP_011514018.1:p.Glu2455Asp | |
| XM_011515717.1:c.7320A>T | XP_011514019.1:p.Glu2440Asp | |
| XM_011515718.1:c.7350A>T | XP_011514020.1:p.Glu2450Asp | |
| XM_011515719.1:c.7326A>T | XP_011514021.1:p.Glu2442Asp | |
| XM_011515720.1:c.7209A>T | XP_011514022.1:p.Glu2403Asp | |
| XM_011515721.1:c.1974A>T | XP_011514023.1:p.Glu658Asp | |
| XM_011515722.1:c.1935A>T | XP_011514024.1:p.Glu645Asp | |
| XM_017011642.2:c.7449A>T | XP_016867131.1:p.Glu2483Asp | |
| XM_017011643.2:c.7410A>T | XP_016867132.1:p.Glu2470Asp | |
| XM_017011644.2:c.7449A>T | XP_016867133.1:p.Glu2483Asp | |
| XM_017011645.2:c.7395A>T | XP_016867134.1:p.Glu2465Asp | |
| XM_017011646.2:c.7410A>T | XP_016867135.1:p.Glu2470Asp | |
| XM_017011647.2:c.7356A>T | XP_016867136.1:p.Glu2452Asp | |
| XM_017011648.2:c.7353A>T | XP_016867137.1:p.Glu2451Asp | |
| XM_017011649.2:c.7386A>T | XP_016867138.1:p.Glu2462Asp | |
| XM_017011650.2:c.7314A>T | XP_016867139.1:p.Glu2438Asp | |
| XM_017011651.2:c.7308A>T | XP_016867140.1:p.Glu2436Asp | |
| XM_017011652.2:c.7449A>T | XP_016867141.1:p.Glu2483Asp | |
| XM_017011653.2:c.7221A>T | XP_016867142.1:p.Glu2407Asp | |
| XM_017011654.2:c.7173A>T | XP_016867143.1:p.Glu2391Asp | |
| XM_017011655.2:c.7077A>T | XP_016867144.1:p.Glu2359Asp | |
| XM_017011656.2:c.7077A>T | XP_016867145.1:p.Glu2359Asp | |
| XM_017011657.2:c.3114A>T | XP_016867146.1:p.Glu1038Asp | |
| XM_017011658.2:c.1998A>T | XP_016867147.1:p.Glu666Asp | |
| XM_017011659.2:c.1959A>T | XP_016867148.1:p.Glu653Asp | |
| XM_017011660.2:c.1959A>T | XP_016867149.1:p.Glu653Asp | |
| XM_024446631.1:c.7212A>T | XP_024302399.1:p.Glu2404Asp | |
| NM_147185.3:c.7290A>T | NP_671714.1:p.Glu2430Asp | |
| NM_001379277.1:c.1959A>T | NP_001366206.1:p.Glu653Asp | |
| NM_005751.5:c.7314A>T MANE Select | NP_005742.4:p.Glu2438Asp |