Linked Data
ClinVar Variation Id:
592099
dbSNP Id:
rs180716474
ExAC:
12:120139663 G / A
gnomAD v2:
12-120139663-G-A
gnomAD v3:
12-119701858-G-A
gnomAD v4:
12-119701858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119701858G>A , CM000674.2:g.119701858G>A | GRCh38 |
| NC_000012.11:g.120139663G>A , CM000674.1:g.120139663G>A | GRCh37 |
| NC_000012.10:g.118624046G>A | NCBI36 |
| NG_029792.1:g.180433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392521.7:c.5405C>T MANE Select | ENSP00000376306.2:p.Thr1802Met | |
| ENST00000545913.6:n.7568C>T | ||
| ENST00000676693.1:n.2731C>T | ||
| ENST00000676833.1:n.4765C>T | ||
| ENST00000676849.1:c.4022C>T | ENSP00000503214.1:p.Thr1341Met | |
| ENST00000677438.1:c.*4511C>T | ENSP00000504095.1:n.*4511C>T | |
| ENST00000677738.1:n.2602C>T | ||
| ENST00000677742.1:n.715C>T | ||
| ENST00000677812.1:c.*4625C>T | ENSP00000504400.1:n.*4625C>T | |
| ENST00000677849.1:c.*4511C>T | ENSP00000503820.1:n.*4511C>T | |
| ENST00000677993.1:c.4010C>T | ENSP00000503765.1:p.Thr1337Met | |
| ENST00000678087.1:c.3896C>T | ENSP00000503863.1:p.Thr1299Met | |
| ENST00000678236.1:n.6865C>T | ||
| ENST00000678494.1:c.1227-14824C>T | ENSP00000503854.1:n.1227-14824C>T | |
| ENST00000678652.1:c.4022C>T | ENSP00000504849.1:p.Thr1341Met | |
| ENST00000678677.1:c.3809C>T | ENSP00000503253.1:p.Thr1270Met | |
| ENST00000679120.1:c.*3412C>T | ENSP00000502891.1:n.*3412C>T | |
| ENST00000679249.1:c.4022C>T | ENSP00000503976.1:p.Thr1341Met | |
| ENST00000679285.1:n.2901C>T | ||
| ENST00000261833.11:c.5279C>T | ENSP00000261833.7:p.Thr1760Met | |
| ENST00000392520.2:c.4117C>T | ||
| ENST00000392521.6:c.5405C>T | ENSP00000376306.2:p.Thr1802Met | |
| ENST00000537607.5:n.4132C>T | ||
| ENST00000538073.5:n.527C>T | ||
| ENST00000545913.5:n.5276C>T | ||
| ENST00000612548.4:c.1442-13794C>T | ENSP00000482318.1:n.1442-13794C>T | |
| NM_001206999.1:c.5405C>T | NP_001193928.1:p.Thr1802Met | |
| NM_007174.2:c.5279C>T | NP_009105.1:p.Thr1760Met | |
| XM_006719206.2:c.5360C>T | XP_006719269.1:p.Thr1787Met | |
| XM_011537783.1:c.5450C>T | XP_011536085.1:p.Thr1817Met | |
| XM_011537784.1:c.5450C>T | XP_011536086.1:p.Thr1817Met | |
| XM_011537785.1:c.5405C>T | XP_011536087.1:p.Thr1802Met | |
| XM_011537786.1:c.5324C>T | XP_011536088.1:p.Thr1775Met | |
| XM_011537787.1:c.5234C>T | XP_011536089.1:p.Thr1745Met | |
| XM_011537788.1:c.5234C>T | XP_011536090.1:p.Thr1745Met | |
| XM_011537789.1:c.4112C>T | XP_011536091.1:p.Thr1371Met | |
| XM_011537790.1:c.4112C>T | XP_011536092.1:p.Thr1371Met | |
| XM_011537791.1:c.4052C>T | XP_011536093.1:p.Thr1351Met | |
| XM_011537792.1:c.3836C>T | XP_011536094.1:p.Thr1279Met | |
| XM_011537790.2:c.4112C>T | XP_011536092.1:p.Thr1371Met | |
| XM_011537791.2:c.4052C>T | XP_011536093.1:p.Thr1351Met | |
| XM_011537792.2:c.3836C>T | XP_011536094.1:p.Thr1279Met | |
| XM_017018735.1:c.5405C>T | XP_016874224.1:p.Thr1802Met | |
| XM_017018736.1:c.5405C>T | XP_016874225.1:p.Thr1802Met | |
| XM_017018737.1:c.5360C>T | XP_016874226.1:p.Thr1787Met | |
| XM_017018738.1:c.3926C>T | XP_016874227.1:p.Thr1309Met | |
| XM_017018739.1:c.3836C>T | XP_016874228.1:p.Thr1279Met | |
| NM_001206999.2:c.5405C>T MANE Select | NP_001193928.1:p.Thr1802Met | |
| NM_007174.3:c.5279C>T | NP_009105.1:p.Thr1760Met |